Goldenhar syndrome

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)

 tumors

• intracranial atypical teratoid rhabdoid tumor and distal 22q11.2 deletion (19938088)

Etiology (Exemples)

 del(1)(p22.2p31.1)
 mosaic trisomy 22 (8585556)
 distal 22q11.2 deletion (19938088)

References

 Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor. Lafay-Cousin L, Payne E, Strother D, Chernos J, Chan M, Bernier FP. Am J Med Genet A. 2009 Dec;149A(12):2855-9. PMID: 19938088

 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