A case of Goldenhar-Gorlin syndrome with unusual association of hypoplastic thumb.
A case of Goldenhar-Gorlin syndrome in a seven-month-old male infant presented with the features of epibulbar dermoid, microtia and hemifacial microsomia associated with thumb defect. The dermoid was bilateral and microtia was unilateral. Preauricular appendages and pits were double and single respectively on both the sides. Hemifacial microsomia was unilateral and was associated with cleft lip, macrostomia, dental misalignment, large tongue and high arched palate. The association of hypoplastic thumb with Goldenhar-Gorlin syndrome has not been documented in the past.
Das
Amitava
A
Department of Ophthalmology, RG Kar Medical College and Hospital, Kolkata - 700 004, India.
Ray
Biswarup
B
Das
Debabrata
D
Das
Somnath
S
D000015:Abnormalities, Multiple; D002971:Cleft Lip / Q000150:complications; D003884:Dermoid Cyst / Q000150:complications; D004431:Ear, External / Q000002:abnormalities; D005146:Facial Asymmetry / Q000150:complications / Q000175:diagnosis; D006053:Goldenhar Syndrome / Q000150:complications* / Q000175:diagnosis; D006228:Hand Deformities, Congenital / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D007223:Infant; D008297:Male; D009918:Orbital Neoplasms / Q000150:complications; D011859:Radiography; D013933:Thumb / Q000002:abnormalities* / Q000000981:diagnostic imaging