A new multiple congenital anomaly, mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies.
We report on a child with a 'new' syndrome characterized by multiple congenital anomalies, mental retardation, sensorineural deafness, talon cusps of upper central incisors, growth retardation, bilateral symmetrical digital anomalies mainly in the form of preaxial brachydactyly and hyperphalangism of digits I-III. Because he had a similarly affected brother and his parents were cousins we suggest autosomal recessive inheritance, X-linked recessive inheritance cannot be excluded. Differential diagnosis from other syndromes with preaxial brachydactyly and hyperphalangism is presented.
Temtamy
S A
SA
Department of Human Genetics, National Research Center, El-Dokki, Cairo, Egypt. Stemtamy@intouch.com
Meguid
N A
NA
Ismail
S I
SI
Ramzy
M I
MI
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D003638:Deafness / Q000235:genetics*; D003937:Diagnosis, Differential; D005532:Foot Deformities, Congenital / Q000235:genetics; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009056:Mouth Abnormalities / Q000235:genetics*; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics*