Branchial cyst, sensorineural deafness, congenital heart defect, and skeletal abnormalities: Branchio-oto-cardio-skeletal (BOCS) syndrome?
This article describes a boy with an unusual combination of features, namely, intrauterine growth retardation, short stature, branchial cyst, sensorineural hearing loss, congenital heart defect, rib and vertebral abnormalities, micromelia, brachymesophalangia, and absence of phalanges. We suggest that these findings comprise a new entity of combined branchio-oto and cardio-digital developmental field abnormalities, which we termed branchio-oto-cardio-skeletal syndrome. The pattern of inheritance remains uncertain.
Basel-Vanagaite
Lina
L
Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel. basel@post.tau.ac.il
Shohat
Mordechai
M
Udler
Yevgenia
Y
Karmazin
Boaz
B
Levit
Orly
O
Merlob
Paul
P
D000328:Adult; D001847:Bone Diseases / Q000000981:diagnostic imaging* / Q000196:embryology / Q000235:genetics; D001935:Branchioma / Q000150:complications / Q000000981:diagnostic imaging* / Q000196:embryology; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000000981:diagnostic imaging*; D006330:Heart Defects, Congenital / Q000150:complications / Q000000981:diagnostic imaging* / Q000196:embryology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011859:Radiography; D014463:Ultrasonography