title: Branchial cyst, sensorineural deafness, congenital heart defect, and skeletal abnormalities: Branchio-oto-cardio-skeletal (BOCS) syndrome?
abstract: 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.
authors.affiliation: Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel. basel@post.tau.ac.il
authors.forename: Lina
authors.initials: L
authors.lastname: Basel-Vanagaite
authors.forename: Mordechai
authors.initials: M
authors.lastname: Shohat
authors.forename: Yevgenia
authors.initials: Y
authors.lastname: Udler
authors.forename: Boaz
authors.initials: B
authors.lastname: Karmazin
authors.forename: Orly
authors.initials: O
authors.lastname: Levit
authors.forename: Paul
authors.initials: P
authors.lastname: Merlob
mesh_terms: 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