Craniofacial anomalies

26 de Mar de 2015

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Craniofacial anomalies

  2. 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:
  3. Treacher-Collins Syndrome (Mandibulofacial dysostosis) • Autosomal dominant, 40% will have family history, other 60% new mutations • Mutation inTCOF1 gene found on chromosome 5q (TREACLE gene), it leads to loss of a specific exon. • 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
  4. 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
  5. 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 – Relative Mandibular prognathism – Possible cleft palate – Nose: Parrot-beaked nose, possible Choanal Atresia – Syndactyly and cervical fusion
  6. Figure 99.4 Apert syndrome has the additional feature of syndactyly. Reference: Bailey’s Otolaryngology-Head & Neck Surgery Apert (acrocephalosyndactyly)
  7. Crouzon Syndrome (Craniofacial Dysostosis) • Most frequently occurring member of cranisyntosis • 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 – Relative Mandibular prognathism – Parrot-beaked nose – No Syndactyly – Cognitive function normal to severe mental retardation
  8. Crouzon Syndrome • Coronal and sagittal sutures are most commonly involved • Cloverleaf skull is rare and occurs in the most severely affected individuals. • Hydrocephalus (progressive in 30%)
  9. Crouzon Syndrome Midface (maxillary) hypoplasia Exophthalmos secondary to shallow orbits Ocular hypertelorism Nose: Beaked appearance Mouth: Mandibular prognathism Narrow, high, or cleft palate and bifid uvula
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. Pierre-Robin Sequence • Triad of: – Retrognathia - abnormal posterior positioning of either of the jaws – Glossoptosis - abnormal downward or back placement of tongue – 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
  16. Pierre-Robin Sequence Figure 99.10 Robin sequence. This infant required a tracheostomy because of airway compromise from severe micrognathia.
  17. 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
  18. Velocardiofacial Syndrome (Shprintzen Syndrome) Figure 99.11 Velocardiofacial syndrome. Broad nose, triangular face, palatal incompetence.
  19. 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
  20. Discussion 1. Craniosynostosis 2. Cloverleaf skull syndrome
  21. Craniosynostosis • Primary craniosynostosis: a primary defect of ossification at the sutures • Secondary craniosynostosis: a failure of brain growth, more commonly • Syndromic craniosynostosis: display other body deformities
  22. Craniosynostosis • The coronal suture separates the 2 frontal bones from the parietal bones. • The metopic suture separates the frontal bones. • The sagittal suture separates the 2 parietal bones. • The lambdoid suture separates the occipital bone from the 2 parietal bones. • The primary factor that keeps sutures open is ongoing brain growth. • Normal skull growth occurs perpendicular to each suture.
  23. Primary craniosynostosis • When 1 or more sutures fuse prematurely, skull growth can be restricted perpendicular to the suture. If multiple sutures fuse while the brain is still increasing in size, intracranial pressure can increase. • Cause: a primary defect in the mesenchymal layer ossification in the cranial bones. • A gene locus for single suture craniosynostosis has not been identified.
  24. Scaphocephaly - Early fusion of the sagittal suture
  25. Ant. plagiocephaly - Early fusion of 1 coronal suture Post. plagiocephaly - Early closure of 1 lambdoid suture
  26. Brachycephaly - Early bilateral coronal suture fusion
  27. Trigonocephaly - Early fusion of the metopic suture
  28. Secondary craniosynostosis • More frequent • Early fusion of sutures due to primary failure of brain growth • Intracranial pressure usually is normal, and surgery seldom is needed • Intrauterine space constraints may play a role in the premature fusion of sutures in the fetal skull. This has been demonstrated in coronal craniosynostosis • Microcephaly usually suggests a secondary craniosynostosis
  29. Secondary craniosynostosis Endocrine Hyperthyroidism, hypophosphatemia, vitamin D deficiency, renal osteodystrophy, hypercalcemia, and rickets Hematologic disorders Which cause bone marrow hyperplasia (eg, sickle cell disease, thalassemia) Inadequate brain growth Microcephaly and its causes and shunted hydrocephalus
  30. Treatment of Craniosynostosis • Do not operate in patients without Increased ICP until the shape of the head does not improve by age 2-4 months, then the abnormality is unlikely to resolve with age • Cosmetic surgery is performed in infants aged 3-6 months in the author's practice