DOCSLIB.ORG

Physical Assessment of the Newborn: Part 3

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Physical Assessment of the Newborn: Part 3 Physical Assessment of the Newborn: Part 3 ® Evaluate facial symmetry and features Glabella Nasal bridge Inner canthus Outer canthus Nasal alae (or Nare) Columella Philtrum Vermillion border of lip © K. Karlsen 2013 © K. Karlsen 2013 Forceps Marks Assess for symmetry when crying . Asymmetry cranial nerve injury Extent of injury . Eye involvement ophthalmology evaluation © David A. ClarkMD © David A. ClarkMD © K. Karlsen 2013 © K. Karlsen 2013 The S.T.A.B.L.E® Program © 2013. Handout may be reproduced for educational purposes. 1 Physical Assessment of the Newborn: Part 3 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 © David A. ClarkMD involved © David A. ClarkMD . 5th (trigeminal – muscles of mastication) . 6th (eye movement) . 8th (balance, movement, hearing) © K. Karlsen 2013 © K. Karlsen 2013 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) © K. Karlsen 2013 © K. Karlsen 2013 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) © K. Karlsen 2013 © K. Karlsen 2013 The S.T.A.B.L.E® Program © 2013. Handout may be reproduced for educational purposes. 2 Physical Assessment of the Newborn: Part 3 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) © K. Karlsen 2013 © K. Karlsen 2013 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 © K. Karlsen 2013 © K. Karlsen 2013 © David A. ClarkMD 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 © K. Karlsen 2013 © David A. ClarkMD © David A. ClarkMD © K. Karlsen 2013 The S.T.A.B.L.E® Program © 2013. Handout may be reproduced for educational purposes. 3 Physical Assessment of the Newborn: Part 3 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 © K. Karlsen 2013 © David A. ClarkMD © K. Karlsen 2013 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 © K. Karlsen 2013 © K. Karlsen 2013 The S.T.A.B.L.E® Program © 2013. Handout may be reproduced for educational purposes. 4 Physical Assessment of the Newborn: Part 3 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 © David A. ClarkMD © K. Karlsen 2013 © K. Karlsen 2013 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 © Crown copyright [2000-2005] Auckland District Health Board © CDC, National Center on Birth Defects and Developmental Disabilities © K. Karlsen 2013 © K. Karlsen 2013 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 © Jack Dolcourt MD Trisomy 18 Microtia / auditory canal atresia © Jack Dolcourt MD © K. Karlsen 2013 © David A. ClarkMD © K. Karlsen 2013 The S.T.A.B.L.E® Program © 2013. Handout may be reproduced for educational purposes. 5 Physical Assessment of the Newborn: Part 3 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 © K. Karlsen 2013 © K. Karlsen 2013 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 © K. Karlsen 2013 © K. Karlsen 2013 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 © K. Karlsen 2013 © K. Karlsen 2013 The S.T.A.B.L.E® Program © 2013. Handout may be reproduced for educational purposes. 6 Physical Assessment of the Newborn: Part 3 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 © Jack Dolcourt MD Cleft lip Cleft palate © Jack Dolcourt MD Bilateral © K. Karlsen 2013 © David A. ClarkMD © K. Karlsen 2013 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) © David A. ClarkMD © Jack Dolcourt MD © Jack Dolcourt MD Cleft palate © K. Karlsen 2013 © K. Karlsen 2013 The S.T.A.B.L.E® Program © 2013. Handout may be reproduced for educational purposes. 7 Physical Assessment of the Newborn: Part 3 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 © K. Karlsen 2013 © Jack Dolcourt MD © K. Karlsen 2013 © David A. ClarkMD 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 © David A. ClarkMD © Crown copyright [2000-2005] Auckland District Health Board © K. Karlsen 2013 © K. Karlsen 2013 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
Load more

Recommended publications
  • Diagnostic Investigations in Individuals with Mental Retardation: a Systematic Literature Review of Their Usefulness
    European Journal of Human Genetics (2005) 13, 6–25 & 2005 Nature Publishing Group All rights reserved 1018-4813/05 $30.00 www.nature.com/ejhg REVIEW Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness Clara DM van Karnebeek1,2, Maaike CE Jansweijer2, Arnold GE Leenders1, Martin Offringa1 and Raoul CM Hennekam*,1,2 1Department of Paediatrics/Emma Children’s Hospital, Academic Medical Center, Amsterdam, The Netherlands; 2Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands There are no guidelines available for diagnostic studies in patients with mental retardation (MR) established in an evidence-based manner. Here we report such study, based on information from original studies on the results with respect to detected significant anomalies (yield) of six major diagnostic investigations, and evaluate whether the yield differs depending on setting, MR severity, and gender. Results for cytogenetic studies showed the mean yield of chromosome aberrations in classical cytogenetics to be 9.5% (variation: 5.4% in school populations to 13.3% in institute populations; 4.1% in borderline- mild MR to 13.3% in moderate-profound MR; more frequent structural anomalies in females). The median yield of subtelomeric studies was 4.4% (also showing female predominance). For fragile X screening, yields were 5.4% (cytogenetic studies) and 2.0% (molecular studies) (higher yield in moderate-profound MR; checklist use useful). In metabolic investigations, the mean yield of all studies was 1.0% (results depending on neonatal screening programmes; in individual populations higher yield for specific metabolic disorders). Studies on neurological examination all showed a high yield (mean 42.9%; irrespective of setting, degree of MR, and gender).
    [Show full text]
  • Spinal Deformity Study Group
    Spinal Deformity Study Group Editors in Chief Radiographic Michael F. O’Brien, MD Timothy R. Kuklo, MD Kathy M. Blanke, RN Measurement Lawrence G. Lenke, MD Manual B T2 T5 T2–T12 CSVL T5–T12 +X° -X +X° C7PL T12 L2 A S1 ©2008 Medtronic Sofamor Danek USA, Inc. – 0 + Radiographic Measurement Manual Editors in Chief Michael F. O’Brien, MD Timothy R. Kuklo, MD Kathy M. Blanke, RN Lawrence G. Lenke, MD Section Editors Keith H. Bridwell, MD Kathy M. Blanke, RN Christopher L. Hamill, MD William C. Horton, MD Timothy R. Kuklo, MD Hubert B. Labelle, MD Lawrence G. Lenke, MD Michael F. O’Brien, MD David W. Polly Jr, MD B. Stephens Richards III, MD Pierre Roussouly, MD James O. Sanders, MD ©2008 Medtronic Sofamor Danek USA, Inc. Acknowledgements Radiographic Measurement Manual The radiographic measurement manual has been developed to present standardized techniques for radiographic measurement. In addition, this manual will serve as a complimentary guide for the Spinal Deformity Study Group’s radiographic measurement software. Special thanks to the following members of the Spinal Deformity Study Group in the development of this manual. Sigurd Berven, MD Hubert B. Labelle, MD Randal Betz, MD Lawrence G. Lenke, MD Fabien D. Bitan, MD Thomas G. Lowe, MD John T. Braun, MD John P. Lubicky, MD Keith H. Bridwell, MD Steven M. Mardjetko, MD Courtney W. Brown, MD Richard E. McCarthy, MD Daniel H. Chopin, MD Andrew A. Merola, MD Edgar G. Dawson, MD Michael Neuwirth, MD Christopher DeWald, MD Peter O. Newton, MD Mohammad Diab, MD Michael F.
    [Show full text]
  • Scarica La Rivista
    Rivista trimestrale di Chirurgia Generale e Specialistica fondata nel 1959 da Tommaso Greco APRILE - GIUGNO 2011 Volume 17Nuova Serie N. 2 Tariffa R.O.C.: Poste Italiane s.p.a. - Spedizione in a.p. - D.L. 353/2003 (conv. in L. 27.02.2004 n. 46) art. 1, comma 1, DCB (Firenze), con I.R. VOL. 17 - Nuova serie - N. 2 Sommario Aprile - Giugno 2011 Articoli Allegato CD-ROM n. 2 - 2011 131 Informazioni per gli autori ARTICOLI ORIGINALI EDITORIALE 145 La chirurgia transanale per prolasso rettale esterno Transanal surgery for external rectal prolapse Alfonso Carriero Nell’ambito di una teoria unitaria del prolasso rettale, è ormai dimostrata una relazione importante tra età dei pazienti e grado del prolasso, cosa che supporta l’ipotesi che il prolasso rettale interno sia un precursore di quello esterno. Dopo avere analizzato le possibili ipotesi fisiopatologiche sulla formazione del prolasso rettale esterno, con le conseguenti opzioni chirurgiche della chirurgia transanale, sono messe a confronto le varie procedure chirurgiche transanali, in particolare la retto-sigmoidectomia perineale secondo Altemeier, intervento attualmente rivalutato soprattutto se combinato alla plastica degli elevatori dell’ano. Il contributo della laparoscopia è ancora in fase di discussione e il suo ruolo nella chirurgia del prolasso rettale esterno potrà meglio evidenziarsi nel tempo. SINGLE-SITE LAPAROSCOPIC SURGERY 154 Trattamento laparoscopico dell’ernia iatale con accesso single-port: esperienza preliminare su 4 casi Single-port laparoscopic hiatal hernia repair: a preliminary experience with 4 cases Felice Pirozzi, Pierluigi Angelini, Vincenzo Cimmino, Francesco Galante, Camillo La Barbera, Francesco Corcione A partire dalla fine degli anni ’90, l’accesso laparoscopico si è imposto come gold standard nella chirurgia del giunto gastro-esofageo.
    [Show full text]
  • Lordosis, Kyphosis, and Scoliosis
    SPINAL CURVATURES: LORDOSIS, KYPHOSIS, AND SCOLIOSIS The human spine normally curves to aid in stability or balance and to assist in absorbing shock during movement. These gentle curves can be seen from the side or lateral view of the spine. When viewed from the back, the spine should run straight down the middle of the back. When there are abnormalities or changes in the natural spinal curvature, these abnormalities are named with the following conditions and include the following symptoms. LORDOSIS Some lordosis is normal in the lower portion or, lumbar section, of the human spine. A decreased or exaggerated amount of lordosis that is causing spinal instability is a condition that may affect some patients. Symptoms of Lordosis include: ● Appearance of sway back where the lower back region has a pronounced curve and looks hollow with a pronounced buttock area ● Difficulty with movement in certain directions ● Low back pain KYPHOSIS This condition is diagnosed when the patient has a rounded upper back and the spine is bent over or curved more than 50 degrees. Symptoms of Kyphosis include: ● Curved or hunched upper back ● Patient’s head that leans forward ● May have upper back pain ● Experiences upper back discomfort after movement or exercise SCOLIOSIS The most common of the three curvatures. This condition is diagnosed when the spine looks like a “s” or “c” from the back. The spine is not straight up and down but has a curve or two running side-to-side. Sagittal Balance Definition • Sagittal= front-to-back direction (sagittal plane) • Imbalance= Lack of harmony or balance Etiology ​ • Excessive lordosis (backwards lean) or kyphosis (forward lean) • Traumatic injury • Previous spinal fusion that disrupted sagittal balance Effects • Low back pain • Difficulty walking • Inability to look straight ahead when upright The most ergonomic and natural posture is to maintain neutral balance, with the head positioned over the shoulders and pelvis.
    [Show full text]
  • Cystic Hygroma
    Further Information We hope this information leaflet has been useful and will help you to understand all about your child's condition. However some medical information can be difficult to understand. If you need more information or have any concerns please speak to a member of Information for Parents / Carers the medical team caring for you or your baby. Looking after and sharing information about you and your child Cystic Information is collected about your child relevant to their diagnosis, treatment and care. We store it in Hygroma written records and electronically on computer. As a necessary part of that care and treatment we may have to share some of that information with other people and organisations that are either responsible for or directly involved with your child's care. If you have any questions please talk to the people looking after your child or contact PALS (Patient Advice and Liaison Service) - you can do this by calling the hospital main number and asking to be put through to PALS. © Clinical Photography & Design Services, Birmingham Children's Hospital NHS Foundation Trust, Steelhouse Lane, Birmingham B4 6NH Produced May 2010 Website: www.bch.nhs.uk Your baby has been diagnosed with a cystic hygroma. Please use this space to write down any notes This means that there are one or more collections of or questions you might have fluid around the neck. These can sometimes lead to complications. The picture below shows what this might look like. This leaflet will give you more information on the condition and what you can expect during pregnancy, delivery and after the baby is born.
    [Show full text]
  • Association Between Selected Structural Defects and Chromosomal Abnormalities
    ARTÍCULO ORIGINAL Association between selected structural defects and chromosomal abnormalities Sandra Acevedo-Gallegos,* Mónica García,* Andrés Benavides-Serralde,* Lisbeth Camargo-Marín,* Mónica Aguinaga-Ríos,** José A. Ramírez-Calvo,* Berenice Velázquez-Torres,* Juan M. Gallardo-Gaona,* Mario E. Guzmán-Huerta* *Departamento de Medicina Materno-Fetal. Unidad de Investigación en Medicina Fetal. **Departamento de Genética, Instituto Nacional de Perinatología Isidro Espinoza de los Reyes. ABSTRACT Asociación entre defectos estructurales seleccionados y anormalidades cromosómicas Objective. To determine the association between some major structural abnormalities detected prenatally by ultrasound RESUMEN and chromosomal abnormalities. Material and methods. The present study was a retrolective, transversal study. We Objetivo. Determinar la asociación entre algunos defectos analyzed case records of patients during the fetal follow-up at estructurales mayores detectados prenatalmente por ultraso- the Department of Maternal Fetal Medicine from January nido y anormalidades cromosómicas. Material y métodos. 1994 to May 2010 to identify fetal patients with a diagnosis of El diseño del estudio fue transversal retrolectivo. Se anali- holoprosencephaly, diaphragmatic hernia, omphalocele, cystic zaron expedientes de pacientes que tuvieron seguimiento en hygroma, hydrops and cardiac defects. We analyzed patients el Departamento de Medicina Fetal de enero de 1994 hasta who had a prenatal invasive diagnosis procedure to obtain mayo 2010 para identificar
    [Show full text]
  • Genes in Eyecare Geneseyedoc 3 W.M
    Genes in Eyecare geneseyedoc 3 W.M. Lyle and T.D. Williams 15 Mar 04 This information has been gathered from several sources; however, the principal source is V. A. McKusick’s Mendelian Inheritance in Man on CD-ROM. Baltimore, Johns Hopkins University Press, 1998. Other sources include McKusick’s, Mendelian Inheritance in Man. Catalogs of Human Genes and Genetic Disorders. Baltimore. Johns Hopkins University Press 1998 (12th edition). http://www.ncbi.nlm.nih.gov/Omim See also S.P.Daiger, L.S. Sullivan, and B.J.F. Rossiter Ret Net http://www.sph.uth.tmc.edu/Retnet disease.htm/. Also E.I. Traboulsi’s, Genetic Diseases of the Eye, New York, Oxford University Press, 1998. And Genetics in Primary Eyecare and Clinical Medicine by M.R. Seashore and R.S.Wappner, Appleton and Lange 1996. M. Ridley’s book Genome published in 2000 by Perennial provides additional information. Ridley estimates that we have 60,000 to 80,000 genes. See also R.M. Henig’s book The Monk in the Garden: The Lost and Found Genius of Gregor Mendel, published by Houghton Mifflin in 2001 which tells about the Father of Genetics. The 3rd edition of F. H. Roy’s book Ocular Syndromes and Systemic Diseases published by Lippincott Williams & Wilkins in 2002 facilitates differential diagnosis. Additional information is provided in D. Pavan-Langston’s Manual of Ocular Diagnosis and Therapy (5th edition) published by Lippincott Williams & Wilkins in 2002. M.A. Foote wrote Basic Human Genetics for Medical Writers in the AMWA Journal 2002;17:7-17. A compilation such as this might suggest that one gene = one disease.
    [Show full text]
  • Cerebral Palsy with Dislocated Hip and Scoliosis: What to Deal with First?
    Current Concepts Review Cerebral palsy with dislocated hip and scoliosis: what to deal with first? Ilkka J. Helenius1 Cite this article: Helenius IJ, Viehweger E, Castelein RM. Cer- Elke Viehweger2 ebral palsy with dislocated hip and scoliosis: what to deal Rene M. Castelein3 with first?J Child Orthop 2020;14: 24-29. DOI: 10.1302/1863- 2548.14.190099 Abstract Keywords: cerebral palsy; hip dislocation; neuromuscular Purpose Hip dislocation and scoliosis are common in children scoliosis; CP surveillance; hip reconstruction; spinal fusion with cerebral palsy (CP). Hip dislocation develops in 15% and surgery 20% of children with CP, mainly between three and six years of age and especially in the spastic and dyskinetic subtypes. The risk of scoliosis increases with age and increasing disabili- Introduction ty as expressed by the Gross Motor Function Score. Hip dislocation develops in 15% and 20% of children with Methods A hip surveillance programme and early surgical cerebral palsy (CP), mainly between three and six years 1 treatment have been shown to reduce the hip dislocation, of age, and especially in the spastic dyskinetic subtypes. but it remains unclear if a similar programme could reduce Children with Gross Motor Function Classification System the need for neuromuscular scoliosis. When hip dislocation (GMFCS) level V demonstrate an incidence of hip dis- 2 and neuromuscular scoliosis are co-existent, there appears to placement up to 90%. The risk of scoliosis increases with 3 be no clear guidelines as to which of these deformities should age and increasing disability (increasing GMFCS level). be addressed first: hip or spine. The risk of scoliosis is 1% for GMFCS level I at ten years of age and 5% at 20 years, but 30% for GMFCS V at ten Results Hip dislocation or windswept deformity may cause years and 80% at 20 years.
    [Show full text]
  • The Genetic Heterogeneity of Brachydactyly Type A1: Identifying the Molecular Pathways
    The genetic heterogeneity of brachydactyly type A1: Identifying the molecular pathways Lemuel Jean Racacho Thesis submitted to the Faculty of Graduate Studies and Postdoctoral Studies in partial fulfillment of the requirements for the Doctorate in Philosophy degree in Biochemistry Specialization in Human and Molecular Genetics Department of Biochemistry, Microbiology and Immunology Faculty of Medicine University of Ottawa © Lemuel Jean Racacho, Ottawa, Canada, 2015 Abstract Brachydactyly type A1 (BDA1) is a rare autosomal dominant trait characterized by the shortening of the middle phalanges of digits 2-5 and of the proximal phalange of digit 1 in both hands and feet. Many of the brachymesophalangies including BDA1 have been associated with genetic perturbations along the BMP-SMAD signaling pathway. The goal of this thesis is to identify the molecular pathways that are associated with the BDA1 phenotype through the genetic assessment of BDA1-affected families. We identified four missense mutations that are clustered with other reported BDA1 mutations in the central region of the N-terminal signaling peptide of IHH. We also identified a missense mutation in GDF5 cosegregating with a semi-dominant form of BDA1. In two families we reported two novel BDA1-associated sequence variants in BMPR1B, the gene which codes for the receptor of GDF5. In 2002, we reported a BDA1 trait linked to chromosome 5p13.3 in a Canadian kindred (BDA1B; MIM %607004) but we did not discover a BDA1-causal variant in any of the protein coding genes within the 2.8 Mb critical region. To provide a higher sensitivity of detection, we performed a targeted enrichment of the BDA1B locus followed by high-throughput sequencing.
    [Show full text]
  • Cystic Hygroma
    Great Ormond Street Hospital for Children NHS Foundation Trust: Information for Families Cystic hygroma This information sheet explains about cystic hygromas, how they can be treated and what to expect when your child comes to Great Ormond Street Hospital (GOSH). What is a cystic hygroma? A cystic hygroma is a collection fluid-filled sacs known as cysts that result from a malformation in the lymphatic system. A cystic hygroma is also known as a lymphatic malformation. The lymphatic system is a network of vessels within the body which form part of the immune system. Lymph nodes are located in the neck, armpits and groin areas and filter the lymph fluid. Before treatment What does a cystic hygroma look like? Cystic hygromas can develop anywhere in the body, but are commonly found in the neck and armpits. It appears as a painless soft lump, which may be translucent. What causes a cystic hygroma and can it be prevented? A cystic hygroma forms when the lymph vessels fail to form correctly during the first few weeks of pregnancy. It cannot be prevented as it occurs so early in pregnancy, usually before the pregnancy is confirmed. Nothing you did or did not do during pregnancy caused the cystic hygroma to develop. The exact cause of cystic hygromas is not clear. They occur in approximately one per cent of children and can affect children of any race and both boys and girls. After treatment Sheet 1 of 3 Ref: 2015F0163 © GOSH NHS Foundation Trust April 2015 How is it diagnosed? Both surgical removal and sclerotherapy are carried out while your child is under Cystic hygromas may be seen on scans during a general anaesthetic.
    [Show full text]
  • Eyelid Conjunctival Tumors
    EYELID &CONJUNCTIVAL TUMORS PHOTOGRAPHIC ATLAS Dr. Olivier Galatoire Dr. Christine Levy-Gabriel Dr. Mathieu Zmuda EYELID & CONJUNCTIVAL TUMORS 4 EYELID & CONJUNCTIVAL TUMORS Dear readers, All rights of translation, adaptation, or reproduction by any means are reserved in all countries. The reproduction or representation, in whole or in part and by any means, of any of the pages published in the present book without the prior written consent of the publisher, is prohibited and illegal and would constitute an infringement. Only reproductions strictly reserved for the private use of the copier and not intended for collective use, and short analyses and quotations justified by the illustrative or scientific nature of the work in which they are incorporated, are authorized (Law of March 11, 1957 art. 40 and 41 and Criminal Code art. 425). EYELID & CONJUNCTIVAL TUMORS EYELID & CONJUNCTIVAL TUMORS 5 6 EYELID & CONJUNCTIVAL TUMORS Foreword Dr. Serge Morax I am honored to introduce this Photographic Atlas of palpebral and conjunctival tumors,which is the culmination of the close collaboration between Drs. Olivier Galatoire and Mathieu Zmuda of the A. de Rothschild Ophthalmological Foundation and Dr. Christine Levy-Gabriel of the Curie Institute. The subject is now of unquestionable importance and evidently of great interest to Ophthalmologists, whether they are orbital- palpebral specialists or not. Indeed, errors or delays in the diagnosis of tumor pathologies are relatively common and the consequences can be serious in the case of malignant tumors, especially carcinomas. Swift diagnosis and anatomopathological confirmation will lead to a treatment, discussed in multidisciplinary team meetings, ranging from surgery to radiotherapy.
    [Show full text]
  • Aneuploidy of Chromosome 8 and C-MYC Amplification in Individuals from Northern Brazil with Gastric Adenocarcinoma
    ANTICANCER RESEARCH 25: 4069-4074 (2005) Aneuploidy of Chromosome 8 and C-MYC Amplification in Individuals from Northern Brazil with Gastric Adenocarcinoma DANIELLE QUEIROZ CALCAGNO1, MARIANA FERREIRA LEAL1,2, SYLVIA SATOMI TAKENO2, PAULO PIMENTEL ASSUMPÇÃO4, SAMIA DEMACHKI3, MARÍLIA DE ARRUDA CARDOSO SMITH2 and ROMMEL RODRÍGUEZ BURBANO1,2 1Human Cytogenetics and Toxicological Genetics Laboratory, Department of Biology, Center of Biological Sciences, Federal University of Pará, Belém, PA; 2Discipline of Genetics, Department of Morphology, Federal University of São Paulo, São Paulo, SP; 3Department of Pathology and 4Surgery Service, João de Barros Barreto University Hospital, Federal University of Pará, Belém, PA, Brazil Abstract. Background: Gastric cancer is the third most second most important cause of death in the world (2). In frequent type of neoplasia. In northern Brazil, the State of Pará northern Brazil, the State of Pará presents a high incidence has a high incidence of this type of neoplasia. Limited data are of this type of neoplasia, and its capital, Belém, was ranked available so far on the genetic events involved in this disease. eleventh in number of gastric cancers per inhabitant among Materials and Methods: Dual-color fluorescence in situ all cities in the world with cancer records (2). Food factors hybridization (FISH) for the C-MYC gene and chromosome 8 may be related to the high incidence of this neoplasia in centromere was performed in 11 gastric adenocarcinomas. Pará, especially the high consumption of salt-conserved Results: All cases showed aneuploidy of chromosome 8 and food, the limited use of refrigerators and the low C-MYC amplification, in both the diffuse and the intestinal consumption of fresh fruit and vegetables (3).
    [Show full text]