Brachydactylic multiple delta phalanges plus syndrome.
Delta phalanges are unusual, shortened bones of the hands and feet with abnormal epiphyses and diaphyses. Here, we report on a patient with a unique multiple congenital anomaly syndrome that includes brachydactyly consisting of multiple delta phalanges in several digits of the hands and feet. The patient, who was born to consanguineous parents, had several other congenital anomalies, including butterfly vertebrae, craniofacial dysmorphism, and coarctation of the aorta. We have called this distinctive condition "brachydactylic multiple delta phalanges plus syndrome." Although no other member of the family had obvious hand or foot anomalies, several siblings had other malformations. Possible modes of inheritance in this family include variable expression of a recessive or de novo dominant condition.
Ahn
Christina P
CP
Department of Pediatrics, Division of Medical Genetics, University of California San Francisco, 94143-0706, USA.
Lachman
Ralph S
RS
Cox
Victoria A
VA
Blumberg
Bruce
B
Klein
Ophir D
OD
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002648:Child; D003241:Consanguinity; D019465:Craniofacial Abnormalities / Q000473:pathology; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005532:Foot Deformities, Congenital / Q000473:pathology*; D006228:Hand Deformities, Congenital / Q000473:pathology*; D006801:Humans; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*