Physical Assessment of the Newborn: Part 2

Home , Birthmark, Caput succedaneum, Mongolian spot

 Evaluate maternal history  Gentle and systematic . Prenatal – complications, possible infections or  Perform hand hygiene (hand sanitizer or wash) environmental exposures, medications, substances  Wear personal protective equipment as indicated of abuse (gloves, mask, gown) . Prior pregnancies  spontaneous abortions,  Perform while infant in quiet state whenever possible stillborns or infant / child deaths  Use clean equipment . Labor / delivery / perinatal complications  Keep infant warm, shield eyes  Past medical and family history from exam light especially if there are anomalies  Comfort during / after exam . Familial traits, physical or  Change soiled diapers / redress developmental disorders following exam  Infant  how illness presented  Perform hand hygiene after exam

 Observe before touching  Observe before touching  Auscultate before palpation – in quiet environment

 Observe before touching Measurements  Auscultate before palpation – in quiet environment  Weight  Gentle palpation  Length . Avoid if acute abdomen  Head circumference . Extra care with  Plot on growth chart by preterm infants . Sex . Gestational age

 Fetal development influenced by maternal environment,  Fetal development influenced by maternal environment, uteroplacental function, and genetic growth potential uteroplacental function, and genetic growth potential  Under optimal circumstances, fetal growth and  Under optimal circumstances, fetal growth and development is appropriate development is appropriate . Appropriate for Gestational Age (AGA) . Appropriate for Gestational Age (AGA)  Well-nourished appearance  Well-nourished appearance

 Fetal development influenced by maternal environment, Small for Gestational Age (SGA) uteroplacental function, and genetic growth potential  Symmetric – proportionate decrease in all growth  Under suboptimal circumstances, parameters for gestational age  usually defined fetal growth and development as < 10th percentile is impacted  . Evaluate for infective, placental, chromosomal or . Small for Gestational Age (SGA) genetic causes . Intrauterine Growth Restriction (IUGR)

Intrauterine Growth Restriction (IUGR) Intrauterine Growth Restriction (IUGR)  Altered fetal growth in late gestation when lipid accumulation is greatest and growth is rapid  Weight low for gestational age  may or may not be < 10th percentile (SGA)  Variable impact on length  Relatively less impact on brain growth “head sparing”  May appear long, wasted and “thin”

 Large for Gestational Age (LGA) . Weight > 90th percentile for  Low birth weight gestational age (LBW): < 2500 grams

 Very low birth weight (VLBW): < 1500 grams

 Extremely low birth weight (ELBW): < 1000 grams

Normal Developmental Reflexes Well Disappears Onset  Active, alert  Root Established At  34 – 36 3 – 4 Good tone . Stroke cheek close to 30 weeks weeks months  Moderate flexion neonate’s mouth  Strong cry, symmetric facies . Head should turn towards stimulus and mouth should open  Symmetric strength and movement

Developmental Reflexes Developmental Reflexes Well Disappears Well Disappears Onset Onset  Suck Established At  Palmar grasp Established At 34 – 36 28 – 32 30 weeks 12 months . Grasp when finger 32 weeks 6 months weeks placed into infant’s weeks palm on ulnar side . Attempts to tighten grasp when finger withdrawn

Developmental Reflexes Developmental Reflexes Well Disappears Well Disappears Onset Onset  Plantar grasp  press Established At  Moro Established At against sole of foot just . Arms extend, abduct, 28 – 32 25 weeks 38 weeks 12 months 37 weeks 6 months behind toes hands open weeks . Normal  flexion and adduction of all toes . Followed by flexion of arms and closing of hands

© Paul Larsen MD Click on video © Paul Larsen MD © K. Karlsen 2013 http://library.med.utah.edu/pedineurologicexam to replay © K. Karlsen 2013 http://library.med.utah.edu/pedineurologicexam Click to replay

Developmental Reflexes Developmental Reflexes Well Disappears Well Disappears Onset Onset  Truncal incurvation Established At  Stepping Established At (Galant reflex) 3 – 4 34 – 36 3 – 4 28 weeks 40 weeks . Alternating stepping 38 weeks . Pelvis moves toward months movements when soles weeks months side of stimulus of feet touch a flat surface

Developmental Reflexes Developmental Reflexes Well Disappears Well Disappears Onset Onset  Babinski  stroke Established At  Tonic neck Established At plantar surface from near 34 – 36 (fencing position) 6 – 7 38 weeks 12 months 35 weeks 1 month heel toward ball of foot weeks . Place infant supine with months . Normal  dorsal flexion of great toe and head turned to one side spreading of other . Arm extends on side head is turned toes . Flexion of opposite arm

Abnormal Findings Neurologic Exam for  Weak suck / poor feeding Therapeutic  Weak / shrill cry (Neuroprotective) Hypothermia  Distressed facies Available for download from:  Lethargy / irritability www.stableprogram.org  Hypotonia / hypertonia (instructor or student menu)  Accentuated or abnormal deep tendon reflexes (DTRs)  Decreased or absent reflexes  Seizures  Coma

 Normal: 36.5 to 37.5C (97.7 to 99.5F) Normal  120 to 160 beats per minute (bpm),  Hypothermia* normal sinus rhythm . Mild: 36.4 to 36C (97.6 to 96.8F)  May range 80 to 200 bpm with rest . Moderate: 35.9 to 32C (96.6 to 89.6F) or activity . Severe: < 32C (89.6F) Bradycardia  Hyperthermia: > 37.5C (99.5F)  Heart rate < 100 bpm  Hypoxemia, hypotension, acidosis  depress conduction system

*World Health Organization (1997). Thermal protection of the newborn:  Rule out heart block A practical guide Complete heart block © K. Karlsen 2013 © K. Karlsen 2013

Tachycardia Cardiac Output  Sustained heart rate > 180 bpm at rest  Heart rate x stroke volume = cardiac output . May indicate shock, poor cardiac output and / or  Neonatal myocardium poorly compliant  limited congestive heart failure capacity to  stroke volume . Rule out arrhythmias or other causes of . To  cardiac output, heart rate will increase  tachycardia tachycardia may be a sign of poor cardiac output  If > 220 bpm, consider supraventricular tachycardia (SVT)

 Measure when calm / use correct cuff size  Compare right arm BP with leg BP . Undersized  overestimates BP  Normal  leg slightly higher than arm . Oversized  underestimates BP  Abnormal  arm 15 mmHg higher than leg  Evaluate systolic, diastolic and mean blood pressure . May indicate coarctation or interrupted aortic arch

Systolic Diastolic Mean 80 80 80

Graphs adapted with permission from: Versmold, et al. (1981) Pediatrics, 67(5).

Evaluate Pulse Pressure Narrow (Low) Pulse Pressure  To calculate  systolic minus diastolic  Vasoconstriction, heart failure (low cardiac output)  Normal  Compression from pneumopericardium . Term: 25 to 30 mmHg Example: 51 – 27 = 24  Tension pneumothorax Pulse pressure = 24 mmHg . Preterm: 15 to 25 mmHg  Pericardial effusion

Wide (High) Pulse Pressure Normal  Large aortic runoff lesion  patent ductus arteriosus,  30 – 60 breaths per minute truncus arteriosus, arteriovenous malformation (AVM)  Easy effort . Without nasal flaring, grunting, AVM or retractions Abnormal  > 60 breaths per minute  < 30 breaths per minute if associated with other signs of respiratory distress . With labored breathing  sign of exhaustion Normal capillary bed Gasping respirations  ominous sign of impending cardiorespiratory arrest

 Easy to feel  Strength  pulses weak or absent  Brachial and femoral pulses equal in strength  Compare brachial to femoral  Pedal pulses palpable . Brachial stronger than femoral  consider  All pulses equal right to left side coarctation or interrupted aortic arch To left To right brachial To left brachial artery artery To right brachial brachial artery artery

 Bounding  evaluate for aortic run-off lesion  Perfusion reflects cardiac output . Patent ductus arteriosus, truncus arteriosus,  Normal capillary refill time (CRT) ≤ 3 seconds large arteriovenous malformation (AVM)

AVM

Press Release Count seconds until skin refills Normal capillary bed

 Perfusion reflects cardiac output  Prolonged capillary refill time (> 3 seconds)  Normal capillary refill time (CRT) ≤ 3 seconds  Pallor  Cool extremities  Mottling  abnormal if associated with other signs of poor perfusion

Compare upper to lower body

Skin mottling

 Congenital anomaly  internal or external  Minor  cosmetic implications  no impact on life structural defect identifiable at birth (“birth defect”) expectancy  Incidence: 2 to 3 % of liveborn infants . Examples: supernumerary (accessory) nipple, . Minor preauricular skin tag, ear pits, accessory digit . Major .  3 minor defects   risk for major malformation  Determine if the anomaly represents malformation, deformation, or disruption of normal development

 Major  functional implications  may impact life Terminology Definition Example expectancy Abnormal morphogenesis of • Structural . Examples: myelomeningocele, cleft lip/palate, underlying tissue (organ or region cardiac disease Malformation of body)  usually by 8th week of • Renal agenesis cardiac malformation, omphalocele gestation; genetic, chromosomal, • Intrauterine  Determine if the anomaly represents malformation, or teratogenic factors viral infection deformation, or disruption of normal development Alteration of extrinsically normal • Clubfoot musculoskeletal tissue secondary • Breech  head Deformation to aberrant mechanical forces, molding intrauterine constraint • Hip dislocation Occurs after organogenesis May be reversible after birth Breakdown of normally formed • Amniotic bands Disruption tissue  affects a body part, or • Intestinal

Terminology Definition Example  Skin  largest organ in the body Recognizable pattern of anomalies Pierre Robin  Epidermis  outermost layer of the skin Sequence  occurs when a single problem sequence in morphogenesis cascades (see part 3)  Stratum corneum  outer layer of the epidermis  2 congenital anomalies VATER or . Composed of closely packed dead cells occurring more often than VACTERL expected by chance alone (see part 3) Stratum corneum Association Epidermis Nonrandom occurrence of multiple malformation  no specific etiology yet identified Recognized pattern of anomalies Down Syndrome with a specific, usually heritable (Trisomy 21) Syndrome cause, similar natural history, known recurrence risk

 Stratum corneum  outer layer of the epidermis  Stratum corneum  primary function: conservation of . 22 weeks: begins to develop body water and barrier protection . 28 to 30 weeks: a few cell layers thick . 32 to 34 weeks: begins to provide some protection . By term: 10 to 20 cell layers thick  Before epidermis and stratum corneum develop, skin is gelatinous, transparent and thin

 Stratum corneum  primary function: conservation of Vernix body water and barrier protection  Thick, lipid-rich, hydrophobic film  coats fetal skin  Yellowish, greasy white  Composed of sebaceous gland secretions and exfoliated skin cells

Infants < 1000 grams (ELBW) are at greatest risk for excessive evaporative water loss

Vernix Vernix  Synthesized during last trimester  gradually  Properties decreases as infant approaches term . Emollient (moisturizing) and cleansing functions  Interacts with developing epidermis  facilitates . Anti-infective  contains antimicrobial peptides formation of stratum corneum associated with the innate immune system . Anti-oxidant . Temperature regulation  After birth, leave vernix intact and spread to allow absorption

 Pink and well perfused Acrocyanosis  Skin intact  Bluish discoloration of hands and feet  No mucous membrane involvement  Rule out hypothermia  infant will peripherally vasoconstrict in response to cold stress  If persists beyond 48 hours  further evaluation indicated

Circumoral Cyanosis Cutis Marmorata  Bluish discoloration around the mouth  Bluish marbling / mottling  Often associated with feeding  Caused by constriction of capillaries and venules in  Rule out central cyanosis response to chilling or stress  Persistent cutis marmorata may be observed with some trisomies or syndromes

Harlequin Sign Vitiligo  Only occurs during newborn period  Occurs in all races  Transient, benign phenomenon  Markedly reduced skin pigment, white or yellow  Cutaneous vessels  imbalance in hair, pink pupils, gray irides, autonomic regulatory mechanism photophobia, cutaneous photosensitivity  More commonly observed in low birthweight infants

Central Cyanosis Pallor  Bluish discoloration of tongue and mucous membranes  Anemia  Caused by desaturation of arterial blood  Indicates cardiac and / or respiratory dysfunction

Twin-to-twin transfusion

Plethora Jaundice Neonatal  Polycythemia  Hyperbilirubinemia polycythemia

Twin-to-twin transfusion Normal hand

Bruising Burn from gloves filled with hot water IV Face presentation delivery Infiltrates

Burn from Betadine Heel stick

Preterm breech delivery

Name Description Size Name Description Size Purpura Hemorrhagic spot 1 to 3 mm Raised, circumscribed, lesion filled Abscess > 1 cm Raised, circumscribed, fluid filled with purulent fluid Vesicle < 1 cm lesion Raised, circumscribed, fluid filled Bulla > 1 cm Raised, circumscribed, blister-like lesion (serous or seropurulent) Pustule lesion filled with purulent or cloudy < 1 cm Papule Raised, circumscribed, solid lesion > 1 cm fluid > 1 cm Raised, circumscribed, plateau-like, Flat, circumscribed, with skin Plaque or fusion of Macule < 1 cm solid, palpable several discoloration papules Patch Largemacule >1cm

Name Description Size Hyperpigmented Patches (“Mongolian Spot”)  Flat, blue-gray, blue- Nodule Raised, circumscribed, solid lesion  2 cm black or brown patches  Most commonly on Keratinization and/or exfoliation of Scale Variable sacrum or lower back dead or dying skin . Also buttocks, lower Raised, palpable, fluid-filled or semi- trunk and extremities Cyst Variable solid filled Raised, circumscribed, edematous, Wheal secondary to fluid collecting within Variable the dermis

Hyperpigmented Patches (“Mongolian Spot”) Sucking Blisters  If extensively distributed  evaluate for underlying disorders (such as lysosomal storage disorder)  May be mistaken for trauma or abuse  Most fade before adulthood

Erythema Toxicum (“Newborn Rash”) Erythema Toxicum (“Newborn Rash”)  Most common benign skin rash   Small white or yellow papules or vesicles (1 to 2 mm) up to 70% of term infants with erythematous base (1 to 3 cm diameter)  Lesions appear first 1 to 2 days of  Wright Stain  numerous eosinophils life  may persist for 1 week  Predominantly face, trunk, extremities

Milia Sebaceous Hyperplasia  Benign, single, 1 to 2 mm white  Smooth white / yellow papules grouped into plaques epidermal cysts  No surrounding erythema  Most often on cheeks, forehead,  Most prominent on face  especially nose, chin nose and upper lip  Rarely on arms, legs, foreskin  Androgen hormonal stimulation in © David A. ClarkMD  Retention of keratin within dermis © Crown copyright [2000-2005] utero from mother or infant  causes Auckland District Health Board  Exfoliate within 2 weeks to 1 month hypertrophy of sebaceous glands  Wright stain  keratinocyte debris  Benign finding  Resolves spontaneously over first few weeks of life

Milia Crystallina Miliaria Rubra (Prickly Heat Rash)  Vesicular or pustular dermatitis secondary to sweat  Small erythematous grouped papules in skin accumulation in obstructed eccrine ducts folds or areas covered by clothing  Thin-walled, clear, non-inflammatory vesicles that  Involves deeper levels of epidermis rupture easily  Usually inflamed  Localized within stratum corneum  Wright stain  predominantly lymphocytes  Wright stain  few cells present

Neonatal Acne Neonatal Pustular Melanosis  Small red papules and pustules primarily over face  Superficial vesiculopustular lesions  May be difficult to differentiate from miliaria rubra  Completely benign condition  Usually appears at 1 to 2 weeks of age  Most common in African Americans . Resolves spontaneously without scarring and those with darker pigmented skin  Wright stain  neutrophils and keratinous debris

All photos © Crown copyright [2000-2005] Auckland District Health Board

Neonatal Pustular Melanosis Seborrheic Dermatitis  Lesions evolve through 3 stages  Greasy, yellow, scaly plaques 1. Superficial pustule appears  may occur in utero  Primarily affects scalp (“Cradle Cap”), forehead, 2. Pustule ruptures and leaves a fine scale (without eyebrows, ears, nasolabial, axillary and perineal folds erythema)  may present at birth in this stage  If present in skin creases, 3. Becomes a hyperpigmented macule that gradually candida infection may disappears (~3 months) occur

Herpes Simplex Virus – HSV Bullous Impetigo  Intrapartum transmission  85% of cases  One of most common neonatal skin . C-section delivery before rupture of infections  staphylococcus aureus © David A. ClarkMD membranes or before 4 to 6 hours of  Flaccid bullae with straw colored or rupture can  infection risk turbid fluid  Lesions may be absent at onset of . Lesions usually not closely grouped disease, however consider HSV anytime . Rupture easily leaving a red, moist denuded surface a newborn presents with a vesicular rash  Healing occurs without scarring  Tense vesicles, erythematous base  evolve into pustules or crusts . May be on presenting part  Undiagnosed maternal infection  lesions at fetal scalp electrode and vacuum sites

All photos © Crown copyright [2000-2005] © Crown copyright [2000-2005] © K. Karlsen 2013 Auckland District Health Board © K. Karlsen 2013 Auckland District Health Board

Incontinentia Pigmenti (IP) Staphylococcal Scalded Skin – “SSS”  At or shortly after birth, erythematous, vesiculobullous  Staphylococcal aureus (S. aureus) linear streaks or whorls and plaques on limbs / trunk produces a toxin that cleaves cell-to- . Resembles herpes simplex and bullous impetigo but cell adhesion proteins in epidermis linear configuration is unique to IP  Usually presents day 3 to 7 of life . Disorder of developing ectoderm  Blisters and fresh skin lesions do © David A. ClarkMD  Eosinophil count may be very high not contain bacteria st  1 stage resolves by 4 months of age  Culture suspected portal of entry  2nd and 3rd for S. aureus: nasopharynx, stages extend conjunctiva, umbilicus, abnormal into childhood skin, blood, urine and adolescence  Differentiate from toxic epidermal necrolysis (TEN) All photos © Crown copyright [2000-2005] Auckland District Health Board © K. Karlsen 2013 © K. Karlsen 2013 © Jack Dolcourt MD

Staphylococcal Scalded Skin – “SSS” Congenital Syphilis  Skin tenderness and erythema  Transplacental transmission of . Starts on face and spreads quickly spirochete  positive RPR or VDRL – within hours to days  Maculopapular copper colored, round . Areas of flexion are also involved lesions  perioral or nasal, diaper area, also may affect palms and soles . Bullae are flaccid and rupture © David A. ClarkMD easily  skin peels off in sheets  Symptoms develop 4 to 8 weeks of life © CDC/ Dr. NormanCole and resembles a scald  Signs at birth  IUGR, nonimmune  2 to 3 days after treatment started hydrops, myocarditis, pneumonia  flaky desquamation  Other signs hepatomegaly, rhinitis  Resolution 3 to 5 days after (“snuffles”)  nasal secretions desquamation phase highly contagious

Dermal Extramedullary Hematopoiesis Varicella (“Chicken Pox”) “Blueberry Muffin” Skin Lesions  Congenital  infection within first 10 days of life © Jack Dolcourt MD  Pathologic process due to bone marrow . Transplacental transmission failure secondary to viral infections: .  Risk for infant mortality . Congenital rubella . Maternal infection 5 days . Cytomegalovirus infection (CMV) before to 2 days after birth . Other viruses: coxsackievirus B2 and parvovirus B19 infection © David A. ClarkMD  Postnatally acquired  Lesions usually on head, neck and . Onset of infection between trunk  bluish, papular eruption 10 and 28 days  May have extramedullary hematopoiesis in liver, spleen, adrenal glands, thyroid gland, pancreas, endocardium, brain

Neonatal Lupus Syndromes Neuroblastoma

 Round or elliptical © Crown copyright [2000-2005] Auckland District Health Board  Most common malignant tumor in neonates erythematous, papulosquamous lesions with central . Primary tumor is usually adrenal, cervical or thoracic clearing, annular erythema, and ﬁne scale  Skin manifestations include small, round, blue, firm,  Usually on face, scalp, neck, trunk, extremities papule / nodule  Maternal autoantibodies target fetal and neonatal tissues  rashes, cytopenias, hepatobiliary disease, . May resemble heart block, cardiomyopathy “blueberry muffin” . ½ of mothers are asymptomatic lesion  evaluate for viral exposure . ½ have a rheumatic condition  Improvement with clearance of maternal autoantibodies  Potential for significant morbidity

Junctional Nevus Congenital Melanocytic Nevi  Nevus cells found at the junction between epidermis  May be present at birth or within first months of life and dermis  Proliferations of nested melanocytes in dermis  Initially smooth, macular (nonpalpable) . Tan or light pink at birth / may contain hair  darkens with age and hair becomes more prominent  Enlarge slowly and become papular . Smooth, nodular, or rough in texture   Risk to develop into melanoma . Brown macules grow proportionally with infant  may develop into papules or plaques  Classified by greatest diameter . Small:  1.5 cm . Medium: 1.5 to 20 cm . Large: segmental distribution – “giant”

Large Congenital Melanocytic Nevus Nevus Simplex (“Stork Bite”, “Salmon Patch”)  Also known as “giant hairy”, “bathing trunk”, or  Most common birthmark  up to 50% of newborns “garment” nevus  Macule  irregular border, dilated/distended capillaries  Darkly pigmented hairy patches  Location  nape of neck, glabella, forehead, eyelids, upper lip  Often upper or lower back  Blanches with pressure  more  Risk of developing malignant prominent with crying © Crown copyright [2000-2005] melanoma Auckland District Health Board  Fades over time © David A. ClarkMD . Small and medium size  1 to 4% risk . Large  10 to 30% lifetime risk / first decade of life  2 to 15% risk

Nevus Flammeus (Port Wine Nevus) Nevus Flammeus (Port Wine Nevus)  Pale pink to reddish purple in color  If involving skin innervated by V1 or  Dilated, congested capillary / venous V2 branches of trigeminal nerve  malformation under epidermis may signal defect in eye . Does not blanch with pressure  Scalp location  may signal CNS © Crown copyright [2000-2005] Auckland District Health Board . Sharply demarcated and flat malformation, especially if hair tuft during infancy or whorl present  May be small or cover large  Lumbo-sacral location  may portion of body signal spinal anomaly . Face most common – usually unilateral  Does not resolve spontaneously

Sturge-Weber Syndrome Superficial (“Strawberry”) Hemangioma  Facial port wine stain with CNS involvement  Benign tumors of dermal and  Usually cutaneous distribution of first branch of subdermal vascular endothelium trigeminal nerve  More common in females and preterm  May present with seizures, hemiparesis, glaucoma

Superficial (“Strawberry”) Hemangioma Diffuse Hemangiomas  Initial proliferative growth (usually lasts 6 months),   5 skin lesions  evaluate then slow, spontaneous involution over  2 years for visceral involvement: . Bright red, slightly elevated, compressible plaque, neonatal hemangiomatosis 2 mm to 2 cm in diameter  Complications  bleeding, ulceration, infection, organ compression, disfiguring scar

2 weeks later 4 weeks later

Cavernous (“Deep”) Hemangioma Cavernous (“Deep”) Hemangioma  Involves deeper tissues  dermis and subcutaneous  Locations requiring emergency specialty evaluation  Bluish/red in color, can have poorly defined borders  Periorbital and lid lesions  Palpation  soft, compressible, “doughy”  Lower face / airway lesions   May enlarge with blood when in dependent position evaluate for stridor and  Proliferative phase over 6 to 12 months respiratory distress  Involutes spontaneously

Kasabach-Merritt Syndrome Epidermolysis Bullosa  Rapidly enlarging vascular lesion – “giant hemangioma”  Blistering or erosion of skin or “cavernous hemangioma” . May include epithelial lining of  Complicated by hemolytic anemia, organs thrombocytopenia, and coagulopathy  Lesions first occur at friction points:  Massive tumors, deep red-blue color heels, wrists, knees, sacrum  Firm and grow rapidly  Fluid in bullae is usually clear or  Proliferate for 2 to 5 years hemorrhagic  May require transcutaneous arterial embolization  High mortality rate

Epidermolysis Bullosa Epidermolysis Bullosa  Classified into 3 main  Evaluate family history for blistering groups – many sub-types diseases  Caused by mutations in  Skin biopsy for immunofluorescence skin’s structural proteins mapping and structure  Treatment is supportive  protect skin from frictional trauma and secondary Classification Cleavage infection, open and drain tense vesicles Epidermolysis Bullosa Epidermolytic: within basal cells of Simplex (EBS) epidermis with sterile needle, use wrapping © David A. ClarkMD Junctional Epidermolysis Lucidolytic: within lamina lucida of (no adhesive tape!), Bullosa (JEB) basement membrane zone overheating may Dystrophic Epidermolysis Dermolytic (subepidermal): beneath increase blistering Bullosa (DEB) lamina densa of basement membrane

Cutis Laxa Collodion Baby  Generalized elastolysis  skin resilience diminished –  Thickened stratum corneum  skin hangs in folds cellophane-like membrane  Outcome dependent upon form of inheritance . Distorts facial features and . Autosomal dominant  normal life digits span, few complications . May restrict movement  difficulty sucking, closing . Autosomal recessive  other body eyes, and at times respiration elastic fibers affected (hernias, GI st and pulmonary disorders, aortic . Usually sloughs by 1 month aneurysm), growth and skeletal  Defective cutaneous barrier dysplasia, IUGR, congenital hip function   risk for dislocation, facial feature dehydration, temperature abnormalities instability, infection

All photos © Crown copyright [2000-2005] © K. Karlsen 2013 © David A. ClarkMD © K. Karlsen 2013 Auckland District Health Board

Harlequin Ichthyosis Edema  Thickening of skin keratin layer  most severe form of congenital ichthyosis  “Armor-like”, hard, thick, contracted skin with deep crevices . Cracking most prominent over areas of flexion  inelasticity of skin limits movement  Rigid skin around eyes  ectropion © David A. ClarkMD  Ears /nose flat, underdeveloped  Lips everted / gaping  “fish-mouth”  Hair sparse or absent  Hands and feet – poorly developed

 Size and shape  Indication of normal versus  Sutures and bones abnormal brain growth  Fontanels  Record largest measurement above ear and eyebrow ridges  Anomalies “Occipitofrontal  Scalp Circumference” (OFC) . Injuries  Varies with molding and . Lesions scalp swelling . Swellings

Assessment Metopic Assessment Metopic suture suture  Normal  Normal Sagittal Sagittal . Approximated suture . Approximated suture . Mobile Coronal . Mobile Coronal suture suture  Abnormal . Overlapping . Wide-spaced Squamosal Squamosal suture . Fused suture

Lambdoidal Lambdoidal suture suture

Anterior Fontanel Left Frontal  Located at junction of frontal and parietal bones Parietal bone bone Anterior  Normal  flat and soft fontanel  Abnormal  tense, bulging or sunken Frontal Right  Usually closes by 12 to 18 months bone Parietal bone  Large size may be associated with congenital hypothyroidism Measure Posterior Fontanel diagonally Occipital bone  Junction of parietal and occipital Parietal bone bones  Closes by 6 months of life Posterior Occipital fontanel bone

Molding Craniotabes  Skull bones move to accommodate passage through  Soft areas of skull, usually on occipital and parietal birth canal – may overlap bones along lambdoidal sutures  Breech position  posterior  Easily depressed and pops right back out molding, prominent occiput  Benign finding unless associated with rickets or Breech osteogenesis imperfecta  Exact etiology unknown  may be secondary to vitamin D deficiency in utero or early engagement of the fetal head

Bruit Craniosynostosis  If bruit heard over anterior fontanel  may indicate  Premature fusion of one or more cranial sutures arteriovenous malformation (AVM)  May be isolated defect or part of a syndrome . Bruit – sound made when blood flows through a  Classification based on number of sutures fused narrow or tortuous vessel . Simple  one suture involved AVM . Complex (or compound)  two or more sutures involved  Skull grows in a parallel direction to fused suture(s)

Normal capillary bed

Craniosynostosis Sagittal Suture Synostosis   Sutures most commonly involved  sagittal, “Scaphocephaly” coronal, metopic   Anteroposterior (AP) length Sagittal   Bitemporal diameter (width of skull)  Frontal and occipital bossing Metopic  Most common  40 to 60% of Coronal Coronal synostosis cases Metopic  Male to female Sagittal ratio 4:1

Positional Skull Deformity (no synostosis)  Coronal Suture Synostosis “Dolichocephaly”  15 to 30% of cases   AP length head  head flattened side to side  Unilateral  “Plagiocephaly” without craniosynostosis . Asymmetrical skull  Often observed with preterm or hypotonic infants  Bilateral  “Brachycephaly” . Wide, taller skull – anteroposterior growth restriction (shortened AP dimension) . More likely to have an associated syndrome

Bilateral Coronal Suture Positional Skull Deformity (no synostosis)  also Synostosis  “Brachycephaly” called “Brachycephaly”  Flat back, side, or top of head  May be normal finding / familial or ethnic  Asian or Crouzon Syndrome Apert Syndrome American Indian  Risk factors  multiple births, oligohydramnios, LGA, breech or transverse position   Incidence since “back-to-sleep” campaign to reduce sudden infant death syndrome

Metopic Suture Synostosis  “Trigonocephaly” Macrocephaly  10 to 20% of cases of isolated  Head circumference > 90th percentile or > 2 standard craniosynostosis deviations above mean for age, gender, gestation  Males 3:1  Causes – 3 general etiologies  Triangular shaped / narrow head, 1. Enlarged brain  macrencephaly pointed forehead, prominent bony 2. Enlarged cerebrospinal fluid spaces  hydrocephaly ridge palpated in middle of forehead 3. Enlarged structures  vascular  Eyes appear hypoteloric (close together), lesions (vein of Galen malformation, upward slanting of palpebral fissures tumor), trauma (intracranial  8 to 15% of cases may have central nervous system, hemorrhage), infection (brain abscess) cardiac, or genitourinary anomalies

Macrocephaly Hydrocephalus – Congenital Causes  Other causes  Chiari II malformation . May be a benign familial trait  one or both parents  Aqueductal stenosis may have an abnormally enlarged head, but may  Encephalocele also occur sporadically without affected parent(s)  Universal craniosynostosis . Generalized disorders of growth  Beckwith- Wiedemann Syndrome, Sotos Syndrome © David A. ClarkMD (cerebral gigantism), Achondroplasia (most common form of dwarfism)

Achondroplasia

Trisomy 13 Hydrocephalus – Acquired Causes Microcephaly  Hemorrhage  post-hemorrhagic  Head circumference < 2 standard hydrocephalus (PHH) is a deviations below the mean for age, Trisomy 18 consequence of germinal matrix gender, gestation hemorrhage  Primary causes . Ventriculomegaly . Genetic disorders Infants with PHH Trisomy 21 . Elevated intracranial pressure  Chromosomal anomalies  . Increasing head circumference trisomy (13, 18, 21), deletion  Infection and translocation syndromes 4 P Syndrome  Tumor with mass effect  Somatic syndromes  Rubinstein-Taybi, Cornelia de Lange,  Venous hypertension Prader-Willi, Smith-Lemli-Opitz Cornelia (and more) de Lange Syndrome © K. Karlsen 2013 © K. Karlsen 2013 © David A. ClarkMD

Microcephaly Microcephaly  Primary causes  Primary causes . Intrauterine infections  rubella, . Congenital disorders  anencephaly, cytomegalovirus, toxoplasmosis, holoprosencephaly, lissencephaly (and more) herpes virus, coxsackievirus, syphilis . Intrauterine exposure to drugs and © Jack Dolcourt MD Holoprosencephaly Anencephaly chemicals  alcohol, cocaine, Congenital CMV phenytoin, trimethadione, methyl mercury . Maternal illnesses  diabetes, malnutrition, hypertension

Microcephaly  Due to Anencephaly Microcephaly  Due to Holoprosencephaly  Accounts for approximately half of all  Failure of forebrain (prosencephalon) to separate into neural tube defects two distinct cerebral hemispheres th  Occurs by 24 days of gestation  Occurs by 5 week of gestation  Midline facial abnormalities  Incidence worldwide ranges from 1 to 10 per 1000 live births  Severity depends upon separation

© CDC, National Center on Birth degree of cerebral hemispheres  Affects girls more often than boys Defects and Developmental Disabilities . Alobar  no cerebral cortical  Many are stillborn separation – most severe form  Maternal history may . Semilobar  some development include polyhydramnios, of interhemispheric fissure © David A. ClarkMD elevated serum . Lobar  relatively normal hemispheres posteriorly, but alpha-fetoprotein poorer separation of anterior and basilar structures

Microcephaly Encephalocele  Secondary causes  destruction of  Brain protrudes through cranial already formed brain in last 2 months of defect rd 3 trimester, or during perinatal period  80% occur in occipital region . Trauma (pictured) . Anoxic injury

. Infections © CDC, National Center on Birth Defects and Developmental Disabilities . Metabolic disorders  Other . Craniosynostosis  usually of multiple

Encephalocele Encephalocele  Brain protrudes through cranial defect  Hydrocephalus present in approximately 50% of cases  20% occur in parietal, frontonasal, intranasal, or  Half of affected infants have other major congenital nasopharyngeal regions anomalies Parietal Frontal . Microcephaly, holoprosencephaly, anophthalmia, cleft lip or palate, craniosynostosis, severe congenital heart disease Holoprosencephaly Anophthalmia

Hydranencephaly Injury Secondary to Scalp Electrode  2nd trimester  major vascular insult Transillumination / occlusion of cerebral arteries . Brain liquifies  leaves meningeal sac that contains CSF . Spares diencephalon, brainstem, posterior fossa structure  Infant may appear normal at birth . Functions initially at a subcortical reflex level . Several weeks old  developmental arrest, decerebration, hypertonia, hyperreflexia  Most die by 6 to 12 months

Cutis Aplasia Cutis Aplasia  Cutaneous anomaly  some or all skin layers absent  May be isolated defect or associated with other  Marginated ulcer, bullae, or scar 1 to 3 cm in diameter anomalies  Usually midline along scalp in parietal or occipital region . Evaluate for midline defects, trisomy 13, cleft lip and palate, limb anomalies, epidermolysis bullosa . More rarely  may involve face, trunk, extremities . Generally heals over weeks to months  Evaluate for associated anomalies or syndromes

Superior sagittal sinus – drains Caput Succedaneum Cephalohematoma Subgaleal Hemorrhage blood from scalp back to heart

Accumulation of Accumulation of serosanguineous serosanguineous fluid in fluid in subcutaneous subcutaneous tissues of scalp tissues of scalp

Emissary Superior Emissary Superior vein sagittal sinus vein sagittal sinus

Location Palpation Blood Loss Duration Location Palpation Blood Loss Duration Edema of presenting part Soft and spongy Minimal Resolves in Edema of presenting part Soft and spongy Minimal Resolves in Usually crosses suture lines Pits on pressure 48 – 72 Usually crosses suture lines Pits on pressure 48 – 72 Shifts with positioning hours Shifts with positioning hours © K. Karlsen 2013 © K. Karlsen 2013

Vacuum Edema Blood accumulation between skull bone and periosteum

EmissaryEmissary Superior veinvein sinussagittal sinus

Location Palpation Blood Loss Duration Stops at sutures Initially firm Rarely severe Resolves in Parietal and occipital bones More fluctuant X-ray if skull 2 weeks to after 48 hrs fracture suspected 3 months © K. Karlsen 2013 © K. Karlsen 2013May be bilateral

Blood accumulation between skull bone and periosteum

EmissaryEmissary Superior veinvein sinussagittal sinus

Subgaleal space holds up to 240 ml of blood – potentially entire blood volume

Rupture of emissary veins  subtle but massive hemorrhage! Superior sagittal sinus

Location Palpation Blood Loss Duration Location Palpation Blood Loss Duration Crosses suture Firm to fluctuant May lead to Resolves over Crosses suture Firm to fluctuant May lead to Resolves over lines – may – “boggy” severe anemia 2 – 3 weeks lines – may – “boggy” severe anemia 2 – 3 weeks extend from eyes Dependent and hypovolemic High extend from eyes Dependent and hypovolemic High swelling swelling © K. Karlsen 2013to nape of neck shock morbidity © K. Karlsen 2013to nape of neck shock morbidity

Risk factors for Development of SGH Severe Subgaleal Hemorrhage  Nulliparous mother  Failed vacuum extraction  Sequential use of vacuum and forceps  Pop-offs  unintended cup release . Safe number not established  Improper cup applications: . Leading edge of cup < 3 cm from anterior fontanel . Cup centered >1 cm lateral to to the sagittal suture . Inspect vacuum marks and record findings

 Stable infant Quantity  Note fluid wave, tachypnea and retractions   or  quantity  assess for congenital anomalies  Hirsutism . Typical of some syndromes  Cornelia de Lange, fetal alcohol, fetal hydantoin . May be a familial characteristic and/or ethnic  Hispanic, Middle-Eastern, American Indian

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Quantity Quantity

Cornelia de Lange Syndrome Hirsutism, long lashes, low hairline Rubinstein-Taybi Syndrome Heavy eyebrows, hairiness

Quantity Distribution  Alopecia or bald patches  Low posterior hairline  occurs with short or webbed neck Congenital absence of  Assess for Turner Syndrome, Noonan Syndrome Alopecia hair growth – bald patch Turner Syndrome

Texture Hair Whorls  Sparse, short, brittle, kinky, or uneven  may  Reflects posterior scalp skin growth affect scalp, eyebrows, or eyelashes  assess for between 10th and 16th week of fetal development congenital anomalies  Normal  95% of infants have single whorl to right or left of midline and within 2 cm anterior to posterior Zellweger Syndrome Goltz Syndrome Trisomy 21 fontanelle; 5% have two whorls  Abnormally placed (more central or posterior), or absent whorl, may reflect abnormal brain growth  assess for microcephaly  > 2 whorls  assess for congenital anomalies Trisomy 21 © David A. ClarkMD © David A. ClarkMD Double whorl

Color  Oculocutaneous albinism  absence of pigment of skin, hair, and eyes

Albinism