Definition: Hemifacial microsomia is a common birth defect involving first and second branchial arch derivatives. The phenotype is highly variable. In addition to craniofacial anomalies, there may be cardiac, vertebral, and central nervous system defects. Most cases are sporadic, but there are rare familial cases that exhibit autosomal dominant inheritance.
Synopsis
epibulbar dermoid
microtia
hemifacial microsomia
preauricular appendages and preauricular pits were double
cleft lip
macrostomia
dental misalignment
large tongue
high arched palate
thumb defect (18292629)
- hypoplastic thumb (thumb hypoplasia) (18292629)
cardiac malformations (5-58%) (18553555)
- atrial and ventricular septal defects
- -*ventricular septal defect (VSDs)
- conotruncal defects
- targeted growth defects
- situs and looping defects
- left-sided obstructive lesion
- patent ductus arteriosus
- tetralogy of Fallot (TOF) (classic or with pulmonary atresia)
Etiology (Exemples)
mosaic trisomy 22 (8585556)
del(1)(p22.2p31.1)
References
Callier P, Faivre L, Thauvin-Robinet C, Marle N, Mosca AL, D’Athis P, Guy J, Masurel-Paulet A, Joly L, Guiraud S, Teyssier JR, Huet F, Mugneret F. Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome. Am J Med Genet A. 2008 Jul 15. PMID: 18629884
Digilio MC, Calzolari F, Capolino R, Toscano A, Sarkozy A, de Zorzi A, Dallapiccola B, Marino B. Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome). Am J Med Genet A. 2008 Jun 13. PMID: 18553555
Das A, Ray B, Das D, Das S. A case of Goldenhar-Gorlin syndrome with unusual association of hypoplastic thumb.Indian J Ophthalmol. 2008 Mar-Apr;56(2):150-2. PMID: 18292629