title: Familial aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits in an inbred Pakistani Muslim family: a possible new autosomal recessive disorder with overlapping manifestations of the syndromes of Fuhrmann, Al-Awadi, and Raas-Rothschild.
abstract: We describe four affected children belonging to a large, highly inbred Muslim family originating from the North West Frontier Province of Pakistan. All children have a similar pattern of skeletal abnormalities, including aplasia/hypoplasia of the ulnae, hypoplasia of the pelvis, aplasia/hypoplasia of the femora, fibular aplasia, and variable digital abnormalities and absent/dysplastic nails. The phenotype overlaps with the syndromes of Fuhrmann, Al-Awadi, and Raas-Rothschild. The present and previously reported families probably share the same geographic and racial origin, indicating a common genetic basis of the reported skeletal abnormalities in these limb-pelvis aplasia and hypoplasia syndromes. A possibility of a new autosomal recessive syndrome in the present family cannot be excluded. Further delineation and molecular studies are required to clarify the genetic cause and phenotypic variation in Fuhrmann, Al-Awadi, and Raas-Rothschild syndromes.
authors.affiliation: Centre for Human Genetics, Childrens Hospital, Sheffield, United Kingdom.
authors.forename: D
authors.initials: D
authors.lastname: Kumar
authors.forename: M B
authors.initials: MB
authors.lastname: Duggan
authors.forename: R F
authors.initials: RF
authors.lastname: Mueller
authors.forename: G
authors.initials: G
authors.lastname: Karbani
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D003241:Consanguinity; D005269:Femur / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005360:Fibula / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005532:Foot Deformities, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D010154:Pakistan; D010375:Pedigree; D010388:Pelvis / Q000002:abnormalities* / Q000000981:diagnostic imaging; D010641:Phenotype; D011859:Radiography; D013577:Syndrome; D014457:Ulna / Q000002:abnormalities* / Q000000981:diagnostic imaging