A distinct autosomal recessive disorder of limb development with preaxial brachydactyly, phalangeal duplication, symphalangism and hyperphalangism.
We describe four children from two consanguineous families with distinctive hand and foot anomalies including preaxial brachydactyly, together with phalangeal duplication, symphalangism and hyperphalangism of fingers I-III. These anomalies are remarkably similar to those described in a previous case report. Additional features were noted both in this case and, to variable degrees, in the four children reported here. These included sensorineural deafness, optic atrophy, mild facial dysmorphism, orodental anomalies and developmental delay. Autosomal recessive inheritance was previously suggested as the patient had a similarly affected brother and his parents were consanguineous. These four cases provide additional evidence for a novel, autosomal recessive disorder involving limb and other associated anomalies.
Race
Hermione
H
North West London Regional Genetics Centre (Kennedy-Galton Centre), North West London Hospitals NHS Trust, Harrow Department of Paediatric Radiology, Great Ormond Street Hospital, London Department of Paediatric Dentistry, Cardiff Dental School, Cardiff Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, UK.
Hall
Christine M
CM
Harrison
Mike G
MG
Quarrell
Oliver W
OW
Wakeling
Emma L
EL
D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D003638:Deafness / Q000235:genetics / Q000473:pathology; D005145:Face / Q000002:abnormalities; D005260:Female; D005385:Fingers / Q000473:pathology*; D005532:Foot Deformities, Congenital / Q000235:genetics* / Q000473:pathology; D005808:Genes, Recessive; D008040:Genetic Linkage; D006228:Hand Deformities, Congenital / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D009896:Optic Atrophy / Q000235:genetics* / Q000473:pathology; D013577:Syndrome