Studies of malformation syndromes of man XXXVIII: The BD syndrome. A "new" multiple congenital anomalies/mental retardation syndrome with athetoid cerebral palsy.
Two patients with a virtually identical physical examination syndrome are reported. Both had severe microbrachycephaly, profound mental retardation and athetoid cerebral palsy. The anomalies include prominence of forehead, hypoplastic midface, mandibular prognathism, apparent midline "cleft" of mandible with absence of lower central incisors, ear and eye anomalies, growth failure, and various similar secondary anomalies due to hypotonia, cerebral palsy and immobilisation. The patients probably represent a "new" MCA/MR syndrome, the etiology of which is still unknown. A genetic cause, i.e., a gene mutation with pleiotropic effects, is suggested. This may involve an autosomal recessive trait, an autosomal dominant new mutation, or an X-linked dominant-hemizygous lethal trait.
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002547:Cerebral Palsy / Q000175:diagnosis; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis*; D010375:Pedigree; D013577:Syndrome