Three sibs with phalangeal anomalies, microcephaly, severe mental retardation, and neurological abnormalities.
This paper describes three children of a Pakistani first cousin marriage with a distinctive, non-progressive disorder characterised by variable phalangeal anomalies, microcephaly, pre- and postnatal growth retardation, poor vision, dystonic movements, a characteristic face, and severe mental retardation. This combination of features seems to be distinct and to represent a new autosomal recessive syndrome.
Woods
C G
CG
Department of Clinical Genetics, Churchill Hospital, Headington, Oxford.
Crouchman
M
M
Huson
S M
SM
D000015:Abnormalities, Multiple / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D008831:Microcephaly / Q000473:pathology*; D009422:Nervous System Diseases; D010154:Pakistan; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*