Physical Assessment of the Newborn: Part 3

Home , Brushfield spots, Cystic hygroma, Hip dislocation, Lordosis, Palpebral fissure, Rectovestibular fistula

 Evaluate facial symmetry and features

Glabella Nasal bridge

Inner canthus Outer canthus

Nasal alae (or Nare) Columella

Philtrum Vermillion border of lip

Forceps Marks  Assess for symmetry when crying . Asymmetry  cranial nerve injury  Extent of injury . Eye involvement  ophthalmology evaluation

Bruising Moebius Syndrome  Congenital facial paralysis  7th cranial nerve (facial) commonly Face presentation involved delivery . Affects facial expression, sense of taste, salivary and lacrimal gland innervation  Other cranial nerves may also be

Position, Size, Distance Outer canthal distance Position, Size, Distance Outer canthal distance  Normal eye spacing   Normal eye spacing  inner canthal distance = inner canthal distance = palpebral fissure length Inner canthal distance palpebral fissure length Inner canthal distance  Interpupillary distance (midpoints of pupils)  distance of eyes from each other Interpupillary distance

Palpebral fissure length (size of eye) Palpebral fissure length (size of eye)

Position, Size, Distance Outer canthal distance Upward-slanting Palpebral Fissures  Normal eye spacing   Outer canthus higher than inner inner canthal distance = canthus palpebral fissure length Inner canthal distance  Normal for Asian descent  Interpupillary distance  May correlate with chromosomal abnormality [midpoints of pupils]  including Trisomy 13 and 21 distance of eyes from each other Trisomy 13 Trisomy 21 Interpupillary distance  Palpebral slant  line drawn from inner to outer canthus should be perpendicular to sagittal plane of face Palpebral fissure length (size of eye)

Downward-slanting Palpebral Fissures Epicanthal Fold  Outer canthus lower than inner canthus  Skin of upper eyelid covers inner canthus (corner) of  Seen in infants with Treacher Collins and Noonan eye and ends in the skin of lower lid syndrome  May disappear as bridge of nose grows  Normal  Asian descent and some non-Asian infants  May correlate with chromosomal abnormality or syndrome  Trisomy 21and other syndromes: Turner, fetal alcohol, Noonan, Rubinstein-Taybi, Williams, and infants with phenylketonuria (PKU)

Microphthalmia Hypotelorism  Small palpebral fissure  Eyes unusually close together  decreased distance between orbits  Evaluate interpupillary distance Trisomy 13 Trisomy 18 Microphthalmia of left eye  midpoints of the pupils  May be associated with central nervous system malformation

Hypertelorism Pupils and Red Reflex  Eyes are too far apart   distance between orbits  Pupils equal, round,  To evaluate, measure interpupillary distance reactive to light (PERRL)  Often seen in infants with craniofacial syndromes  Red reflex present bilaterally

Absent or Unequal Red Reflex Sclerocornea Blocked lacrimal duct  Corneal opacities . Glaucoma . Sclerocornea

 Cataracts © David A. ClarkMD . Bilateral – absent red reflex Conjunctivitis . Unilateral – unequal red reflex Unilateral  Tumors (e.g., retinoblastoma) congenital cataract © David A. ClarkMD  Mucous or foreign body in tear film Bilateral congenital cataracts © K. Karlsen 2013 © David A. ClarkMD © K. Karlsen 2013 © Jack Dolcourt MD

Coloboma Brushfield Spots  Missing tissue in eye – cleft,  White / grayish spots on the surface of iris in a “keyhole” shape, or “cat’s-eye” pupil partially or fully concentric ring  Locations  eye lid, cornea, iris,  More frequently seen in Trisomy 21, but may also lens, ciliary body, retina, choroid, be a normal variant optic nerve Trisomy 21  Microphthalmia is common  May be isolated finding or observed with CHARGE association, 22q11 deletion, Trisomy 13 and 18, Treacher Collins, Walker-Warburg © Jack Dolcourt MD  Full ophthalmologic evaluation indicated

 Normal  insertion of ear falls above line drawn Triangular from inner to outer canthus of eye fossa Helix Insertion

Antihelix

Concha Tragus External auditory meatus Antitragus

Lobule

Abnormal  Low Set Preauricular Pits  Insertion of ear falls below line drawn from inner to outer canthus of eye . Assess for chromosomal abnormalities or syndromes Pierre Robin Sequence Trisomy 8

Preauricular Skin Tags  Microtia – external portion of ear does not form  Usually an isolated benign finding properly  impacts size, shape, location of pinna and ear canal  Evaluate for family history of deafness  Anotia – complete absence of pinna and ear canal  Renal workup may be indicated if other dysmorphic features or risk factors present Microtia Anotia

Treacher Collins Syndrome Beckwith-Wiedemann Trisomy 13 Microtia, abnormally Syndrome Microtia / shaped, aural atresia Extra creases of earlobe abnormal helix and indentations into Goldenhar Syndrome posterior helix Microtia, aural atresia

Trisomy 18 Microtia / auditory canal atresia

Choanal Atresia Choanal Atresia  One or both nares are obstructed  One or both nares are obstructed  Cyanotic at rest but  Cyanotic at rest but ‘pinks up’ with crying ‘pinks up’ with crying  If bilateral, may need  If bilateral, may need oral airway or oral airway or endotracheal intubation endotracheal intubation

Choanal Atresia  Lips   One or both nares are obstructed Gums  Cheeks  Cyanotic at rest but ‘pinks up’ with crying  Tongue  Palate – hard, soft  If bilateral, may need oral airway or endotracheal intubation

Area of obstruction

Epstein Pearls  Milia on midline of hard palate Short frenulum  Usually grouped, firm, movable, opaque and white  Very common  85% of newborns  May take several months to resolve Natal teeth

Macroglossia Cleft Lip and/or Palate Congenital hypothyroidism  Cleft lip more common than cleft palate . Unilateral – more often on left side . Bilateral  70% of cleft lip and/or palate are isolated oral clefts (no other associated defects)  Causes: environmental, maternal diet, maternal medications Beckwith-  Maternal risk factors Wiedemann © Jack Dolcourt MD Syndrome . Smoking . Diabetes

. Alcohol consumption © CDC, National Center on Birth Defects and Developmental Disabilities © K. Karlsen 2013 © K. Karlsen 2013

Unilateral Lateral Facial Cleft  Macrostomia

Treacher Collins Syndrome

Cleft lip © Jack Dolcourt MD and palate

Micrognathia Pierre-Robin Sequence  Small malformed mandible Pierre Robin Sequence Treacher Collins Syndrome Mobius Syndrome (micrognathia)  during development, causes tongue to move backward and upward in oral cavity  may cause cleft palate  Tongue obstructs airway (glossoptosis)

 Short  Short

 Nuchal thickening  Nuchal thickening Turner’s Syndrome  Webbing  Webbing webbed neck  Torticollis  Torticollis Pierre Robin Sequence Trisomy 21  Masses short neck nuchal thickening  Masses

Cystic Hygroma Fetal Alcohol Syndrome  Collection of lymphatic fluid  soft, fluctuant swelling  Flattened midface that transilluminates  Broad nasal bridge  Evaluate for chromosomal and cardiac abnormalities  Short, up-turned nose  May compress trachea  ensure patent airway  Smooth, long philtrum  Thin upper lip  Hypoplastic maxilla

Trisomy 21 Trisomy 18  Short round head  Prominent occiput  Flat facial profile  Triangular facies  Epicanthal folds  Small palpebral fissures  Brushfield’s spots  Ptosis  Up-slanting palpebral fissures  Pinched appearance of nose  Short, flat nasal bridge  Low-set, malformed ears  Protruding tongue  Micrognathia  Short, narrow palate  Small mouth  Small, low-set ears  Short neck, excess nuchal folds Fused eyes

Trisomy 13 Trisomy 13  Microcephaly, sloping forehead  Holoprosencephaly Microphthalmia  Central facial anomalies . Cleft lip, palate © Jack Dolcourt MD . Anophthalmia, microphthalmia, hypotelorism, cataracts, coloboma of iris . Midface hypoplasia Anophthalmia, Holoprosencephaly  Broad, bulbous nose  Low-set, malformed ears  Scalp  wide sagittal sutures and fontanels, cutis aplasia

Shape Turner Syndrome Broad chest and wide  Broad Short sternum spaced nipples  Narrow  Bell shaped  Short

Breasts and Nipples Accessory nipple Gynecomastia Respiratory Effort  Placement  Abnormal  Shape . Tachypnea  Pigmentation . Nasal flaring  Secretions . Grunting  Inflammation . Retractions Mastitis Wide spaced nipples

Retractions Retractions  Intercostal – between the ribs  Subcostal – below the rib cage  Substernal – under the sternum  Suprasternal – above the sternum

Respiratory Airway Obstruction distress  Nose  Mouth and jaw  Larynx or trachea  Bronchi

Click on video to replay (with sound)

Diaphragmatic Hernia Diaphragmatic Hernia  Defect in diaphragm  allows bowel in chest  UAC tip  aorta shifted to right  Gastric tube tip  in stomach in chest

Diaphragmatic Hernia Esophageal Atresia / Tracheoesophageal Fistula  Presentation . 85% occur on left side . Usually severe respiratory distress . Scaphoid (sunken) abdomen, barrel chest  especially as bowel fills with air . Bowel sounds may be heard in chest . If left hernia  heart sounds heard in right chest  Stabilization Type A Type B Type C Type D Type E . Insert gastric tube to prevent air from entering 8% 1% 86% 1% 4% stomach and intestine . Intubate and provide gentle ventilatory support

Esophageal Atresia / Tracheoesophageal Fistula Esophageal Atresia / Tracheoesophageal Fistula  Signs  Assess for VATER / VACTERL association . Choking, coughing, cyanosis with feeding . Vertebral abnormalities . Anal atresia . Excessive salivation  if esophageal atresia . Cardiac anomalies . Respiratory distress secondary to aspiration . Tracheoesophageal fistula / . Abdominal distension  fistula from trachea Esophageal atresia to stomach  air cannot escape stomach . Renal and/or radial anomalies  Maternal history . Limb dysplasia . Polyhydramnios suggests esophageal # of Systems Affected Percentage of Cases atresia or bowel obstruction 3 75% 4 25% 5 uncommon Type C © Jack Dolcourt MD 86% of cases Congenital Heart Disease 75% of cases of VACTERL

VACTERL Association Heart Size  Cardiothoracic Ratio  A = widest horizontal diameter of heart A Esophageal atresia, right of midline duodenal atresia, dextrocardia, fused ribs on left

Ensure x-ray reflects good inspiration and infant is not rotated

Heart Size  Heart Size  Cardiothoracic Ratio Cardiothoracic Ratio  A = widest horizontal  A = widest horizontal diameter of heart diameter of heart A A right of midline right of midline B B  B = widest horizontal  B = widest horizontal diameter of heart diameter of heart left of midline left of midline C  C = widest internal A + B diameter of chest at or just below base of heart Ensure x-ray reflects good  Normal in neonate = + < of inspiration and infant is not rotated

Heart Size  Precordial Activity  Normal Cardiothoracic Ratio  “Quiet” chest area immediately above heart  Enlarged  myocardial  Point of maximal impulse (PMI) dysfunction, . 5th intercostal space congestive heart . Lower left sternal border (LLSB) failure

 Small or compressed  poor filling, poor cardiac output

Precordial Activity  Abnormal  Hyperactive precordium Click to  PMI shifted to right replay . Dextrocardia (no sound) . Tension left pneumothorax . Diaphragmatic hernia  PMI shifted to left  tension right pneumothorax

First Heart Sound  S1 Second Heart Sound  S2  Closure of mitral and tricuspid valves  Closure of aortic and pulmonic valves = A2, P2  End of atrial systole  End of ventricular  Heard best systole . 5th intercostal  Heard best space at the left . Upper left sternal midclavicular line border (ULSB) or . Pulmonic valve area . Lower left sternal border (LLSB)

Anterior ribs numbered © K. Karlsen 2013 © K. Karlsen 2013

Murmur Murmur  Sound caused by turbulent  Sound caused by turbulent blood flow due to: blood flow due to: . Blood forced through . Blood forced through narrowed areas PS narrowed areas  Valvular stenosis  Valvular stenosis  Ventricular septal defect (VSD) Soft, higher Harsh, lower pitched pitched

See the S.T.A.B.L.E. Cardiac Module for an Murmur Murmur  Intensity Grading in depth review of  Sound caused by turbulent 1: Barely audible congenital heart disease blood flow due to: 2: Soft but audible . Blood forced through 3: Moderately loud, no thrill narrowed areas 4: Loud, associated with thrill  vibratory sensation  Valvular stenosis 5: Audible with stethoscope barely touching chest  Ventricular septal defect (VSD) 6: Audible with stethoscope not touching chest . Regurgitation through incompetent or abnormal valves Ebstein’s . Flow across normal structures – anemia Palpating for thrill

Ectopic Cordis  Appearance  full, slightly rounded  Split sternum – heart protrudes outside the chest  Color  no discoloration  Intracardiac anomalies common  Bowel sounds active  High mortality rate  Palpation  soft and non-tender, no organomegaly  Stool  meconium passage within 1st 48 hours of life  Emesis  minimal, non-bilious, non-projectile Normal meconium stool Stool at 3 days, breast fed infant

 Appearance  scaphoid, distended, visible loops Scaphoid Abdomen  Color  erythema, bluish discoloration

 Bowel sounds  hypo or hyperactive Bile stained Congenital diaphragmatic hernia  Palpation  firm, tender emesis in 4-day old with volvulus  Stool  blood in stool or frankly bloody  Emesis  bilious, projectile, large volume

Blood in stool

Distended Abdomen Distended Abdomen Visible bowel loops – bilious gastric drainage

Bowel obstruction

Pneumatosis Pneumoperitoneum – intestinalis free intra-abdominal air Esophagus

Stomach Duodenum Colon Ileum Jejunum Rectum Anus

Duodenal Atresia Duodenal Atresia  “Double-Bubble” sign

Infant with Trisomy 21 Distended gas filled stomach and mildly distended gas filled duodenal bulb / No bowel gas in rest of bowel Complete atresia Partial or complete obstruction secondary to annular pancreas © K. Karlsen 2013 © K. Karlsen 2013

Jejunoileal Atresia Meconium Ileus  Atresia may be in ileum,  Inspissated meconium jejunum or both obstructs the terminal ileum  Small bowel is dilated with  Pellets of hard meconium gas prior to area of atresia prevent passing of gas or stool Type IIIa  Majority of cases caused Jejunoileal Atresia by a lack of pancreatic enzymes  necessary to digest intestinal contents  Evaluate for cystic fibrosis

Colonic Atresia Meconium Plug Syndrome  Note dilated small  More common in preterm infants and infants of intestine and colon up diabetic mothers to area of atresia  Poor intestinal motility  thick inspissated meconium obstructs colon  Small percentage of infants may have cystic fibrosis

centimeters

Umbilical Cord Wharton's Jelly Cyst  Two arteries  May occur at any location along cord  One vein  Irregular shape and located between vessels  Umbilicus cutis   20% are associated with structural (omphalocele, normal variant patent urachus, . Periumbilical skin extends up sides of umbilical cord hydronephrosis) or chromosomal . Forms an outpouching when cord falls off abnormalities . Differentiate from umbilical hernia Umbilicus cutis

Single Umbilical Artery Umbilical Cord  True Knot  Two vessel cord  1 artery, 1 vein   Risk of intrauterine demise due to cord  Incidence compression or birth asphyxia due to tightening of knot at delivery . Singleton: 5 to 10/1,000 births . Twin gestation: 35 to 70/1,000 births   Risk for chromosomal abnormalities and congenital malformations, especially genitourinary system

Omphalitis Patent Urachus  Infection of umbilical stump  usually presents around  Urachus  embryonic connection 3rd day of life between fetal bladder and umbilicus  Erythema, edema, tenderness . Postnatally becomes fibrous cord  Discharge may be foul  Patent urachus  hollow tube smelling connecting bladder and umbilicus  May be localized infection . Urine seen exiting umbilicus or spread to abdominal wall,  Differentiate from granuloma  peritoneum, umbilical or soft tissue, 3 – 10 mm, dull red or portal vessels, pink, vascular and granular, liver treated with silver nitrate cautery until base is dry Patent © Crown copyright [2000-2005] urachus Auckland District Health Board © K. Karlsen 2013 © K. Karlsen 2013 © David A. ClarkMD

Omphalocele Omphalocele  Abdominal wall defect   High incidence (50 to 75%) of significant chromosomal, abdominal contents herniate cardiac, gastrointestinal, genitourinary, into base of umbilical cord musculoskeletal, central nervous system anomalies  Covered by membranous sac  umbilical cord connects to

central portion of membrane © David A. ClarkMD  Can be subtle  carefully assess all cords before clamping

Omphalocele Gastroschisis  Membranous sac protects herniated organs unless it  Defect in abdominal wall to becomes torn RIGHT of umbilical cord See Stabilization Folder for initial  No peritoneal sac protects care guidelines herniated organs  5 to 10% incidence associated defects

Gastroschisis – Initial Care Hernia  Umbilical  Inguinal

See Stabilization Folder for initial care guidelines © K. Karlsen 2013 © K. Karlsen 2013 © David A. ClarkMD © David A. ClarkMD

Malrotation Malrotation  Mesentery fails to attach to  Mesentery fails to attach to entire posterior abdominal wall entire posterior abdominal wall  Instead abnormally attaches  Instead abnormally attaches in region of duodenum  in region of duodenum  Ladd’s bands Ladd’s bands

Midgut Volvulus (twisting)  Clockwise rotation with strangulation  blood supply to small intestine cut off

Midgut Volvulus Midgut Volvulus

Surgical evaluation Time 1 Reevaluation 24 hours later Necrotic bowel Some bowel recovery Necrotic bowel resected

Midgut Volvulus – Presentation Liver  Bilious emesis  Normal size  2 cm below right costal margin  Abdominal exam  Located in right . Soft or tender abdomen . May or may not be distended  With progressive vascular compromise of intestine, ischemia causes: . Significant pain . Bloody stools . Shock and metabolic acidosis

Liver Liver Enlargement  Midline location  asplenia or polysplenia syndrome  Left abdomen location Cytomegalovirus – . Heart in right side  situs inversus totalis – usually hepatosplenomegaly normal heart . Heart in left side usually indicates complex CHD

Liver  Gluteal or natal cleft  Auscultate over liver . Groove between  If bruit heard  may indicate arteriovenous buttocks from sacrum malformation (AVM) secondary to large hepatic to perineum hemangioma  Gluteal fold . AVM may precipitate high output congestive heart failure

13 © K. Karlsen 2013 © K. Karlsen 2013

 Inspect from base of skull Coccygeal Pit  common and harmless down to coccyx and  Located within gluteal cleft between gluteal cleft  Skin visualized at base . Skin disruption  evaluate for underlying mass

. Dimples, pits Y-shaped gluteal cleft, . Unusual pigmentation (outside of sacral pits mongolian spots)  Palpate for . Vertebral alignment . Abnormal curvature  scoliosis, lordosis, kyphosis Abnormal thoracic vertebral column © K. Karlsen 2013 © K. Karlsen 2013

Pit versus Sinus Spinal Dysraphism

 Stretch the skin lateral to dimple  Term used to describe congenital Myelocystocele malformation of spine or spinal cord  If skin can be seen covering entire dimple this is a coccygeal pit  benign finding  Open lesions: neural tube exposed  myelomeningocele, meningocele,  If base of dimple cannot be visualized  dermal sinus anencephaly  Closed lesions: defect covered by skin Dermal Sinus  may communicate with spinal canal  dermal sinus tract, tethered spinal Lipomeningocele  Associated with occult spinal dysraphism and  risk cord, myelocystocele, spinal cord for meningitis lipoma, lipomeningocele (and more)  Locations  lumbosacral, occipital Occult Spinal Dysraphism (OSD)  Never probe area  risk of introducing infection  Synonym used for closed lesions  skin covered neural tube defect

Occult Spinal Dysraphism (OSD) Occult Spinal Dysraphism (OSD)  Most have an associated cutaneous abnormality: Lumbo-sacral . Tuft of hair mass Lipomatous . Atypical dimple mass / tethered . Skin tag or tail-like appendage cord diagnosed Cutis aplasia Lipoma Hairy patch . Lipoma . Hemangioma . Cutis aplasia or dermal sinus tract . Port-wine stain (concerning especially if other lesions present)   2 congenital midline skin lesions  strongest marker of OSD

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

Sacral Dimple Spina Bifida Occulta  < 5 mm in size, midline, and < 2.5 cm  One or more of the vertebrae are malformed from anus not associated with OSD*  Small gap in spine, but is covered by skin  > 5 mm in size, deep, > 2.5 cm from  Spinal cord and nerves usually normal anus may indicate OSD* (especially if  Usually does not cause any nervous combined with other lesions) system disability

*OSD: Occult (closed) Spinal Dysraphism

Open Spinal Dysraphism  Meningocele Open Spinal Dysraphism  Myelomeningocele  Spinal fluid and meninges protrude through abnormal  Sac of fluid protrudes through back and vertebral opening does contain spinal cord and nerves  No neural elements (spinal cord)  Moderate to severe disability   May or may not be covered by may affect bowel and bladder a layer of skin continence and sensation in legs or feet  Usually no nerve damage, but outcome is variable

From: http://www.cdc.gov/ncbddd/spinabifida/facts.html From: http://www.cdc.gov/ncbddd/spinabifida/facts.html © K. Karlsen 2013 © K. Karlsen 2013

Myelomeningocele Evaluation Myeloschisis  Membrane intact versus ruptured  Most severe form of myelomeningocele  Size and location of lesion  Complete exposure of nerves and tissues  Tone, spontaneous movements, reflexes  Presence or absence of anal wink  Ability to void and empty bladder  OFC, sutures, fontanel for hydrocephalus

Myelomeningocele – Initial Care Imperforate Anus  Meconium from a fistula external to hymen but not on perineal skin indicates rectovestibular fistula  most common type of imperforate anus in females

Fistula

Imperforate Anus  Urine output  majority of term, well newborns void  May have low or high lesion within 24 hours of life  Watch for meconium from fistula . Volume increases as enteral intake is established . Male urine stream: straight, forceful, continuous  Palpation © David A. ClarkMD . Kidneys – smooth, equal in size

Rectoperineal fistula location Evaluate here for © David A. ClarkMD meconium  would indicate rectoperineal fistula Normal Rectoprostatic fistula urine output Rectoprostatic fistula  between from urethra distal bowel and urethra

Delay in Urination Eagle-Barrett Syndrome – “Prune-Belly Syndrome”  24 to 48 hours of life  evaluate for  Renal and urinary tract abnormalities . Palpable bladder . Ureters dilated and tortuous – reflux common . Abdominal mass . Bladder enlarged . Hydration status . Infection common secondary Distended bladder  > 48 hours of life is concerning to urinary stasis . Further workup to evaluate  Deficiency of abdominal wall for impaired renal musculature  protruding, function is indicated thin-walled abdomen with wrinkled skin

Eagle-Barrett Syndrome – “Prune-Belly Syndrome” Oligohydramnios Sequence  Potter’s Syndrome  Intestinal malrotation common  Oligohydramnios (little amniotic fluid) or  Less common  limb and cardiac anomalies anhydramnios (no amniotic fluid produced) secondary to  95% of cases are male infants renal agenesis or severe renal . Bilateral cryptorchidism structural disorders  Results in fetal compression and impaired fetal breathing and lung development

Bladder Exstrophy and Epispadias Bladder Exstrophy and Epispadias  Bladder exstrophy  inner posterior wall of bladder (male infants shown) protruding through a defect in anterior pelvic wall  Repair before 48 hours may be more successful because of maternal hormone relaxin  Epispadias . Male: short, wide penis with urethral opening on dorsal surface . Female: urethral opening between bifid clitoris and labia © William Kennedy MD © K. Karlsen 2013 © K. Karlsen 2013 © David A. ClarkMD

Hypospadias  Subcoronal  urethral opening near head, but not at tip of penis  Midshaft  urethral opening located on Coronal shaft of penis hypospadias Subcoronal hypospadias Epispadius © Jack Dolcourt MD  Penoscrotal  urethral opening where penis and Subcoronal Midshaft Penoscrotal shaft of penis and scrotum meet  Circumcision contraindicated in newborn period  skin will be needed for © David A. ClarkMD © David A. ClarkMD © CDC, National Center on Birth surgical correction Defects and Developmental Disabilities © K. Karlsen 2013 © K. Karlsen 2013

Chordee Genital Hypoplasia  Ventral curvature of the penis  May also have hypospadias  Circumcision is contraindicated in newborn period  Micropenis and skin will be needed for surgical correction cryptorchidism

Chordee with hypospadias and bifid scrotum

Hydrocele  Fluid collection in the scrotum  smooth / non-tender, Incomplete fusion of unilateral or bilateral scrotal/labial folds Absent right testicle Cryptorchidism  Transillumination  confirms fluid-filled contents  Most resolve by 1 year

Testicular Torsion  Usually occurs prenatally Bruising and edema from breech vaginal delivery  Testicle may be: . Nontender . Firm . Indurated . Swollen  If acutely occurred  extremely tender to

palpation © David A. ClarkMD  If longstanding  may not Right testicle is affected show any signs of pain Note: subtle discoloration and size difference © K. Karlsen 2013 © K. Karlsen 2013

Vaginal prolapse Pseudo menses  Work-up by endocrine, genetics, urology specialists to determine gender and underlying cause of ambiguity Circumcision is contraindicated Virilization due to when genital ambiguity exists congenital adrenal hyperplasia (CAH)

Redundant vaginal mucosa, vaginal skin tag

Humerus  Work-up by endocrine, genetics, urology specialists to determine gender and underlying cause of ambiguity Femur Circumcision is contraindicated when genital ambiguity exists

Breech Presentation Developmental Dysplasia of the Hip (DDH)  Evaluate for developmental dysplasia of hip  Dislocation of femoral head from hip socket (acetabulum)  1 to 2 per 1,000 births  Risk factors . Female  secondary to additional estrogen production which increases ligamentous laxity . Breech presentation © David A. ClarkMD . Oligohydramnios  restricted movement . Positive family history + Galeazzi sign if unilateral dislocation

Developmental Dysplasia of the Hip (DDH) Developmental Dysplasia of the Hip (DDH)  Signs  Ortolani Maneuver . May have no noticeable difference . If unilateral, uneven skin folds of thigh or buttocks and shorter leg on side of hip dislocation  Occurs on . Left side 60% . Right side 20% . Both sides 20%

+ Galeazzi sign if unilateral dislocation

Developmental Dysplasia of the Hip (DDH) Brachial Plexus Injuries  Barlow maneuver  Stretching or tearing of the plexus  nerves originating from C5 to T1  May have history of macrosomia, difficult delivery with traction and lateral neck flexion secondary to: . Shoulder dystocia . Prolonged vaginal extraction . Breech presentation with traction of shoulder . Difficult vertex presentation with turning away of head  Usually unilateral  right side affected more often . Also evaluate for fracture of clavicle or humerus

Brachial Plexus Injuries – 3 types Brachial Plexus Injuries – 3 types 1. Erb Palsy 1. Erb Palsy  Most common form, involves C5, C6, at times, C7  Improvement usually seen within first few days of life  Partial paralysis of shoulder muscles and complete recovery by 1 to 18 months  Arm adducted, internally rotated and pronated, extension of elbow, wrist flexed  “waiter’s tip” position  Reflexes . Asymmetrical Moro, absent on affected side . Biceps reflex weak or absent . Grasp usually present

Brachial Plexus Injuries – 3 types Arthrogryposis Multiplex Congenita 2. Klumpke  Multiple joint contractures present at birth  C8 and T1 injury . Evaluate for any condition limiting  Forearm and hand involved  wrist and finger fetal movement  neuromuscular extension weak, hand flaccid, grasp reflex absent, disease, brain malformations, deep tendon reflex present chromosomal defects, genetic syndromes, lesions of central nervous system 3. Complete Palsy  ~ 150 different syndromes associated  Injury of all plexus nerves, all reflexes absent with multiple congenital contractures  Involved muscles are replaced partially or completely by fat and fibrous tissue

Arthrogryposis Multiplex Congenita Achondroplastic Dwarfism  Upper and lower extremities involved in 40% of cases  Macrocephaly, prominent  Shoulders  adducted, internally forehead, flat nasal bridge rotated  Average size torso  Elbows and wrists  flexion/extension  Short arms and legs (especially contractures, radial deviation upper arms and thigh area)  Hands  thumb deformities,  Fingers short, with abnormal rigid interphalangeal joints appearance at times – extra space  Hips  abduction, external rotation, between the middle and ring contractures, dislocation of hip(s) fingers – “trident” hand  Knees  extension/flexion contractures  Bowed lower legs  Bilateral club foot

Achondroplastic Dwarfism Thanatophoric Dysplasia  May be inherited or spontaneous  Lethal congenital skeletal dysplasia mutation (both parents without  Features dwarfism) . Large head  Genetic bone disorder . Short neck  Most common type of dwarfism – . Narrow thorax short-limbed dwarfism . Short limbs © David A. ClarkMD  Normal intelligence © David A. ClarkMD . Short, small fingers . Bowed extremities

Amniotic Band Triploidy Syndrome Claw hand  Constriction © David A. ClarkMD  Amputation Cornelia de Lange © Jack Dolcourt MD Asymmetric © David A. ClarkMD © David A. ClarkMD © David A. ClarkMD Phocomelic shortening of 1st Zellweger Syndrome and 2nd fingers Ulnar deviation

Hypoplasia of Polydactyly right thumb  Evaluate for bone in stalk connecting digit to hand

Rubinstein-Taybi Bifid thumb Broad thumb

Syndactyly Rocker bottom feet Toes Fingers Dorsiflexed hallux

Club feet

Zellweger Syndrome Goltz Lymphedema Prominent knees Syndrome  Turner’s Syndrome Oral-facial- digital Type 2 Duplication of hallus

Trisomy 21 Trisomy 18  Short, broad hands and feet  Overlapping, tapered fingers  Simian crease across palm  Hypoplastic nails © Jack Dolcourt MD  Wide space between great and  Rocker-bottom feet 2nd toe

Trisomy 13  Polydactyly  Syndactyly  Tapered, thin fingers  Short hallux (great toe)  Rocker bottom feet