a review of pediatric syndromes l.
Skip this Video
Loading SlideShow in 5 Seconds..
A Review of Pediatric Syndromes PowerPoint Presentation
Download Presentation
A Review of Pediatric Syndromes

Loading in 2 Seconds...

play fullscreen
1 / 40

A Review of Pediatric Syndromes - PowerPoint PPT Presentation

  • Uploaded on

A Review of Pediatric Syndromes. Jamie Tibbo, PGY-5 Department of Otolaryngology July 25, 2008. CHARGE Syndrome. Autosomal Dominant Due to a mutation in DNA-binding protein-7 ( CHD7 ) gene Coloboma- posterior chamber(80%) Heart anomalies (85%) Atresia of choana (57%)

I am the owner, or an agent authorized to act on behalf of the owner, of the copyrighted work described.
Download Presentation

PowerPoint Slideshow about 'A Review of Pediatric Syndromes' - Samuel

An Image/Link below is provided (as is) to download presentation

Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author.While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server.

- - - - - - - - - - - - - - - - - - - - - - - - - - E N D - - - - - - - - - - - - - - - - - - - - - - - - - -
Presentation Transcript
a review of pediatric syndromes

A Review of Pediatric Syndromes

Jamie Tibbo, PGY-5

Department of Otolaryngology

July 25, 2008

charge syndrome
CHARGE Syndrome
  • Autosomal Dominant
  • Due to a mutation in DNA-binding protein-7 (CHD7) gene
  • Coloboma- posterior chamber(80%)
  • Heart anomalies (85%)
  • Atresia of choana (57%)
  • Retardation- growth(80%) & mental (70%)
  • Genital defects (in males)
  • Ear anomalies (90-100%) & deafness(62%)
    • Usually bilat and mixed hearing loss
digeorge syndrome
DiGeorge Syndrome
  • Genetic disorder due to microdeletion of Chromosome 22q11.2 (tbx-1 gene)
    • The same genetic defect as VCF with different phenotypic expression
  • Characterized by:
    • Hypocalcemia (due to hypoplastic parathyroids)
    • Immunodeficiency due to hypoplastic thymus
    • Congenital heart defects of the outflow tracts (aorta and pulmonary artery).
  • Reference: http://medicine.net
pendred syndrome
Pendred Syndrome
  • Autosomal recessive
  • SNHL associated with iodine metabolism defect leading to euthyroid goiter
  • Thyroid abnormality detcted with a perchlorate discharge test (shows abnormal organification of nonorganic iodine)
  • Temporal bone imaging often show Mondini malformation or enlarged VA’s
treacher collins syndrome mandibulofacial dysostosis
Treacher-Collins Syndrome (Mandibulofacial dysostosis)
  • Autosomal dominant, 40% will have family history, other 60% new mutations
  • TCOF1 gene found on chromosome 5q (TREACLE gene)
  • Malformation of 1st (& 2nd) branchial arches
  • Otologic: Malformed ossicles, auricular deformity, aural atresia, CHL present 30% of time, occasional SNHL
    • 50% will have hearing impairment from EAC and/or middle ear malformations
  • Preauricular fistulas, mandibular and malar hypoplasia, antimongoloid palpebral fissures, coloboma of the lower eyelids, may have cleft lip and palate, normal IQ
treacher collins syndrome mandibulofacial dysostosis6
Treacher-Collins Syndrome (Mandibulofacial dysostosis)

Figure 99.12 Treacher Collins syndrome. Zygomatic and mandibular hypoplasia, lower lid colobomas, and downslanting palpebral fissures.

Reference: Bailey’s Otolaryngology-Head & Neck Surgery

alport syndrome
Alport Syndrome
  • 6 subtypes: 3 AR, 3 X-linked
  • Progressive SNHL (usually 2nd decade)
  • Varying degrees of renal disease (renal agenesis to mild renal dysplasia identifiable on ultrasound)
    • Renal disease can be severe in men/boys
apert acrocephalosyndactyly
Apert (acrocephalosyndactyly)
  • Autosomal dominant, most cases due to spontaneous mutation
  • Due to a mutation of FGFR-2 (Fibroblast Growth Factor Receptor) gene (10q26)
  • Common findings:
    • Craniosynostosis (pre-mature fusion of the cranial sutures)
    • Severe symmetrical syndactyly
    • Low-set ears
    • Cognitive function normal to severe mental retardation
    • Eyes: down-slanting palpebrael fissures, Hypertelorism, Exophthalmos
    • Midface hypoplasia
    • Mandibular prognathism
    • Possible cleft palate
    • Nose: Parrot-beaked nose, possible Choanal Atresia
    • Syndactyly and cervical fusion
apert acrocephalosyndactyly9
Apert (acrocephalosyndactyly)

Figure 99.4 Apert syndrome has the additional feature of


Reference: Bailey’s Otolaryngology-Head & Neck Surgery

crouzon syndrome craniofacial dysostosis
Crouzon Syndrome(Craniofacial Dysostosis)
  • Autosomal dominant, 50% due to spontaneous mutations, complete penetrance, variable expresivity
  • Due to mutation of FGFR-2 (Fibroblast Growth Factor Receptor) gene (10q26)
  • Common findings:
    • Craniosynostosis (pre-mature fusion of the cranial sutures)
    • Hypertelorism
    • Exophthalmos
    • Midface hypoplasia
    • Mandibular prognathism
    • Parrot-beaked nose
    • No Syndactyly or cervical fusion
    • Cognitive function normal to severe mental retardation
branchiootorenal syndrome melnick fraser syndrome
Branchiootorenal Syndrome (Melnick-Fraser Syndrome)
  • Autosomal dominant, involves 8q between D8S87 and D8S165 (EYA1 gene)
  • Branchial cleft anomalies (63%): cysts or fistulae
  • Otologic malformations:
    • hearing loss (89%)
    • preauricular pits (77%)
    • auricle abnormalities (41%)
    • ossicular & cochlear malformations
    • 2% of children with severe/profound SNHL
  • Renal Dysplasia (66%)
    • agenesis, polycystic kidneys, duplicated ureters; renal abnormalities identifiable on IVP or renal U/S
branchiootorenal syndrome melnick fraser syndrome12
Branchiootorenal Syndrome (Melnick-Fraser Syndrome)

Figure 99.6 Branchio-oto-renal syndrome. This 3-year-old boy has visible cup-ear deformities. He also has branchial cleft fistulae and only one kidney.

Reference: Bailey’s Otolaryngology-Head & Neck Surgery

down syndrome
Down Syndrome
  • Craniofacial Features:
    • Brachycephaly
    • Flat occiput
    • Abnormal small ears
    • Upslanting palpebral fissures
    • Epicanthic folds
    • Short small nose
    • Midface hypoplasia
    • Large fissured lips
    • Large fissured tongue
    • Dental abnormalities
    • Short neck
    • Atlantoaxial subluxation & instability
goldenhar syndrome oculoauriculovertebral spectrum
Goldenhar Syndrome (Oculoauriculovertebral spectrum)
  • Characterized by unilateral facial asymmetry, unilateral external & middle ear changes, vertebral malformations
  • Ocular findings: upper lid colobomata
  • Otologic findings: mildly deformed ears to anotia, EAC atresia, ossicular abnormalities
  • Underdevelopment of mandible, orbit, facial muscles, also may have hemivertebrae of vertebral column
  • Hemifacial macrosomia often placed in this category
  • Most cases sporadic, some autosomal dominant reported
goldenhar syndrome oculoauriculovertebral spectrum15
Goldenhar Syndrome (Oculoauriculovertebral spectrum)

Figure 99.8 Goldenhar syndrome. This 5-year-old boy has facial asymmetry and right microtia.

Reference: Bailey’s Otolaryngology-Head & Neck Surgery

jervell lange nielsen syndrome
Jervell Lange-Nielsen Syndrome
  • Autosomal recessive; one form linked to a potassium channel gene (KVLQT 1) on 11p15.
  • Classic presentation:
    • Deaf child who experiences syncopal episodes during periods of stress, exercise, fright
  • Profound bilateral congenital SNHL (high frequencies worse)
  • Heart disease: prolonged QT, large T waves, Stokes-Adams attacks (Cardiac syncope)
  • Usually terminates fatally with sudden death; treated with ß-blockade
noonan syndrome
Noonan Syndrome
  • Originally thought to be a variant of Turner Syndrome- used to be referred to as “male version of Turner Syndrome”
  • Autosomal Dominant
    • PTPN11 gene (12q24)
  • Clinical Findings:
    • Growth Development: 80% have short stature
    • Facial Features:
      • Triangular face, hypertelorism, down-slanting eyes, ptosis, strabismus (48%), amblyopia (33%), refractive errors (61%), low-set ears with thickened helices, high nasal bridge, short webbed neck.
    • Otologic Features: progressive HF-SNHL in up to 50%
    • Chest/Back Features: pectus carinatum/excavatum, scoliosis
    • Cardiac Features: pulm valve stenosis common, possibly any defect
    • Abdominal Features: hepatosplenomegaly (25%)
    • Genitourinary Features: renal anomalies (10%), undescended testes (50%)
    • Skeletal Features: bleeding diasthesis,joint laxity (50%), radioulnar synostosis, cervical spine fusion
    • Skin Findings: lymphedema, prominent pads fingers and toes (67%), follicular keratosis of face and extensor surfaces (14%)
    • Neurologic Features: hypotonia, Sz disorder (13%)
pierre robin sequence
Pierre-Robin Sequence
  • Triad of:
    • Retrognathia
    • Glossoptosis
    • Cleft palate
  • Pathology: due to retrognathia which prevents descent of the tongue into the oral cavity; prevents secondary palate fusion
  • Associated with a syndrome in 50-80% of cases, most commonly Stickler & VCF syndromes
pierre robin sequence19
Pierre-Robin Sequence

Figure 99.10 Robin sequence. This infant required a tracheostomy because of airway compromise from severe micrognathia.

stickler syndrome
Stickler Syndrome
  • Autosomal dominant, mutation of COL2A1 gene on chromosome 12
    • responsible for type II collagen gene
    • COL2A1: typically mild and not significantly progressive hearing loss
    • COL11A1: more severe hearing loss
    • COL11A2: non-ocular Stickler syndrome, hearing like COL11A1
  • Small jaw with Robin sequence & cleft palate
  • Myopia with retinal detachment & cataracts
  • Hypermobility & enlarged joints, early onset arthritis, occ. spondyloepiphyseal dysplasia
  • SNHL or mixed HL in 80%, educationally significant in 15%
usher syndrome
Usher Syndrome
  • Autosomal recessive, 10% of hereditary deafness
  • Retinitis pigmentosa causing progressive visual loss.
  • Patients born deaf secondary to atrophy of organ of Corti.
  • Ataxia and vestibular dysfunction common
  • Eye changes detected on electroretinography even before funduscopic changes identified; ophthalmology consult essential
usher syndrome22
Usher Syndrome
  • Four main types:
    • Type I: profound congenital deafness, RP onset by age 10, no vestibular response; 90% of Ushers
    • Type II: moderate/severe congenital deafness, onset of RP in teens/twenties, normal or decreased vestibular response, 10% of all cases
    • Type III: progressive HL, RP begins in puberty, <1% of cases
    • Type IV: X-linked inheritance, similar to type II
velocardiofacial syndrome shprintzen syndrome
Velocardiofacial Syndrome (Shprintzen Syndrome)
  • Autosomal dominant, characterized by abnormal facies, VPI, CLP, and cardiac anomalies
  • Hemizygous microdeletion of 22q11
  • Almond shaped palpebral fissures, deficient nasal alae, tubuar nose with bulbous tip, small mouth
  • Long face with vertical maxillary excess, malar flatness, mandibular retrusion
  • Palatal clefting ranges from submucus clefting to overt wide cleft palate with hypernasality
  • Cardiac anomalies in 80%, most commonly VSD; other anomalies include right sided aortic arch, tetralogy of Fallot, aortic valve disease
  • Medial displacement of ICA’s present in up to 25% of patients
velocardiofacial syndrome shprintzen syndrome24
Velocardiofacial Syndrome (Shprintzen Syndrome)

Figure 99.11 Velocardiofacial syndrome. Broad nose, triangular face, palatal incompetence.

waardenberg syndrome
Waardenberg Syndrome
  • Defined by the presence (type I) or absence (type II) of dystopia canthorum; SNHL occurs in 20% in Type I, 50% in Type II
  • Autosomal dominant
    • Type I gene locus PAX3 on chromosome 2
    • Type II gene locus MITF (microphthalmia transcription factor) on chromosome 3 (20% of cases)
  • Clinical findings
    • Pigment abnormalities: white forelock, premature graying, vitiligo, heterochromia iridis
    • Craniofacial abnormalities (dystopia canthorum, broad nasal root, synophrys)
    • Unilateral or bilateral SNHL
    • Klein-Waardenburg (Type III): features of WS1 plus blue eyes, hearing impairment, upper limb skeletal dysplasias, muscular hypotonia
    • Waardenburg-Shah (Type IV): phenotype similar to WS2 plus Hirschprung megacolon; AR
waardenberg syndrome26
Waardenberg Syndrome
  • Type I: Dystopia canthorum present; this condition is 20 times more common than type II.
  • Type II: Dystopia canthorum not present; hearing loss is more common in this type (50%) as well as pigmentary disorders.
  • Type III: Klein-Waardenburg syndrome or pseudo-Waardenburg, no dystopia canthorum but with one-sided ptosis of the upper eyelid and upper limb anomalies.


waardenberg syndrome27
Waardenberg Syndrome

Figure 99.13 Waardenburg syndrome. This mother and daughter have Waardenburg syndrome type I. Both have hearing loss and dystopia canthorum. The child also has heterochromia irides.

neurofibromatosis 1 von reklinghausen disease
Neurofibromatosis 1(Von Reklinghausen Disease)
  • Diagnostic criteria includes 2 or more of the following:
    • Six or more café au lait macules larger than 5 mm in the greatest diameter in prepubertal children and larger than 1.5 cm in postpubertal individuals
    • Two or more neurofibromas of any type or 1 plexiform neurofibroma
    • Multiple freckles (Crowe sign) in the axillary or inguinal region
    • A distinctive osseous lesion, such as sphenoid dysplasia or thinning of long bone cortex, with or without pseudoarthrosis
    • Optic glioma
    • Two or more iris hamartomas (Lisch nodules) seen on slitlamp or biomicroscopy examination
    • A first-degree relative (parent, sibling, offspring) with same disease, as diagnosed by using the above criteria.


neurofibromatosis 1 von reklinghausen disease29
Neurofibromatosis 1(Von Reklinghausen Disease)
  • Mental retardation, learning disabilities, and speech defects are not uncommon
  • Autosomal dominant. NF1 gene location is in the 17q11.2 region. Fresh mutations represent about 50% of cases
neurofibromatosis 2
Neurofibromatosis 2
  • Autosomal dominant, with 95% penetrance and linkage to 22q11-q13. The gene has been isolated, and encodes a protein named merlin
  • Diagnostic criteria include the following:
    • Bilateral acoustic neuroma seen with CT or MRI or
    • A first-degree relative with the disease and either unilateral 8th nerve mass, or two of the following:
      • neurofibroma
      • meningioma
      • glioma
      • schwannoma
      • juvenile posterior subcapsular lenticular opacity
kartagener syndrome
Kartagener Syndrome
  • Autosomal recessive inheritence. Autosomal dominant or X-linked inheritance has also been suggested
  • Pansinusitis in childhood, absence of the frontal sinuses, and thick nasal rhinorrhea
  • Anosmia and nasal polyps are frequent complications.
  • Mastoid air cells are poorly developed.
  • Otitis media as a result of eustachian tube dysfunction results in deafness, usually of the conductive type
  • Recurrent pneumonia and chronic cough are common.
  • Situs inversus with gross defects in cardiac septation may occur. One-sixth of situs inversus cases have the syndrome
  • Immobility of the sperm produces sterility in the males; affected females may have decreased fertility. The lack of dynein arms is the most common structural abnormality in the respiratory and fallopian cilia and the sperm tails
sturge weber syndrome encephelotrigeminal angiomatosis
Sturge-Weber Syndrome(Encephelotrigeminal angiomatosis)
  • Present at birth with seizure and large port-wine birthmark on side of face
  • Capillary malformation of the ophthalmic division of the trigeminal nerve.
  • Associated with vascular malformations of the leptomeninges, leads to ischemic atrophy and cortical calcification
  • Clinically causes seizures, focal neurologic deficits, developmental delay
pfeiffer s syndrome
Pfeiffer’s syndrome
  • Similar to Apert Syndrome but have digital broadening rather than syndactyly
harlequin syndrome
Harlequin Syndrome
  • Severe ichthiosis syndrome
  • Also known as Ichtheosis Fetalis
  • Autosomal Recessive
  • Mutation in the lipid-transporter gene ABCA12 on chromosome 2.
  • Ears: The pinnae may be small and rudimentary or absent.
  • Nose: Nasal hypoplasia and eroded nasal alae may occur.
moebius syndrome congenital facial diplegia
Moebius Syndrome (Congenital Facial Diplegia)
  • Expressionless Face
    • absence or underdevelopment of the 6th and 7th cranial nerves
  • First symptom, present at birth, is an inability to suck.
  • Other symptoms can include: feeding, swallowing, and choking problems; excessive drooling; crossed eyes; lack of facial expression;; eye sensitivity; motor delays; high or cleft palate; hearing problems; and speech difficulties.
  • Small or absent brain stem nuclei that control the cranial nerves, as well as decreased numbers of muscle fibers, have been reported.
  • Deformities of the tongue, jaw, and limbs, such as clubfoot and missing or webbed fingers, may also occur. As children get older, lack of facial expression and inability to smile become the dominant visible symptoms.

Reference: http://www.ninds.nih.gov/disorders/mobius/mobius.htm

mobius syndrome congenital facial diplegia
Mobius Syndrome (Congenital Facial Diplegia)

Reference: http://en.wikipedia.org/wiki/Mobius_syndrome

maffucci syndrome
Maffucci syndrome
  • Multiple cavernous hemangiomas
  • Dyschondroplasia & shortening and deformity of involved bones
  • Occasional visceral vascular lesions
  • 25% incidence of chondrosarcoma
kasabach merritt syndrome
Kasabach-Merritt syndrome
  • Up till recently associated with hemangioma; skin lesion with red/brown discoloration that suddenly enlarges into a violaceous plaque
  • Characterized by platelet sequestration, ecchymosis, no female predominance
  • Histologic lesion: a tufted angioma or kaposiform hemangioendothelioma
  • Management supportive; heparin contraindicated, use of blood products avoided because of increased trapping within lesion; anemia treated with PRBC’s
melkersen rosenthal syndrome chelitis granulomatosa
Melkersen-Rosenthal Syndrome(Chelitis Granulomatosa)
  • Most cases of sporadic. Familial occurrences suggest an autosomal dominant transmission
  • Recurrent or persistent lip swelling, facial swelling, facial palsy and furrowed tongue
    • Swelling of the lips is usually of sudden onset, unilateral, or bilateral. The upper lip is affected in most cases and may remain swollen permanently. This occurs in 75% of patients.
    • Histologically the swollen tissues exhibit chronic granulomatous changes similar to sarcoidosis or tuberculosis
  • Auditory and visual disturbances, swelling in the hands and chest, blepharospasm, epiphora, and megacolon may be seen.
  • The disease begins in childhood or early adulthood.
  • It is considered a local immune response and vasomotor disturbance affecting the vasa vasorum of the vessels supplying the facial nerve and neighboring structures

Reference: Bailey’s Otolaryngology-Head & Neck Surgery

references acknowledgments
  • Bailey’s Otolaryngology-Head & Neck Surgery
  • Cumming’s Otolaryngology-Head & Neck Surgery
  • University of Alberta Otolaryngology Notes