Basel-Vanagaite Lina, Shohat Mordechai, Udler Yevgenia, Karmazin Boaz, Levit Orly, Merlob Paul
Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.
Am J Med Genet. 2002 Nov 15;113(1):78-81. doi: 10.1002/ajmg.10723.
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.
