TY - JOUR
T1 - Branchial cyst, sensorineural deafness, congenital heart defect, and skeletal abnormalities
T2 - Branchio-oto-cardio-skeletal (BOCS) syndrome?
AU - Basel-Vanagaite, Lina
AU - Shohat, Mordechai
AU - Udler, Yevgenia
AU - Karmazin, Boaz
AU - Levit, Orly
AU - Merlob, Paul
PY - 2002/11/15
Y1 - 2002/11/15
N2 - 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.
AB - 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.
KW - Branchial cyst
KW - Congenital heart disease
KW - Sensorineural deafness
KW - Skeletal abnormalities
UR - http://www.scopus.com/inward/record.url?scp=0037110991&partnerID=8YFLogxK
U2 - 10.1002/ajmg.10723
DO - 10.1002/ajmg.10723
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AN - SCOPUS:0037110991
SN - 0148-7299
VL - 113
SP - 78
EP - 81
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 1
ER -
