title: Mesomelic limb shortness: a previously unreported autosomal recessive type.
abstract: We report on sibs, the offspring of a consanguineous mating, whose mesomelic shortness and bowing of limbs with associated skin dimpling, retrognathia, mandibular hypoplasia, cleft palate, and camptodactyly represents a previously apparently unreported syndrome. The radiological findings are discussed, particularly with regard to the main known diagnostic possibilities.
authors.affiliation: Department of Paediatric Genetics, Hospitals for Sick Children, London, United Kingdom.
authors.forename: W
authors.initials: W
authors.lastname: Reardon
authors.forename: C M
authors.initials: CM
authors.lastname: Hall
authors.forename: S
authors.initials: S
authors.lastname: Slaney
authors.forename: S M
authors.initials: SM
authors.lastname: Huson
authors.forename: J
authors.initials: J
authors.lastname: Connell
authors.forename: N
authors.initials: N
authors.lastname: al-Hilaly
authors.forename: J
authors.initials: J
authors.lastname: Fixsen
authors.forename: M
authors.initials: M
authors.lastname: Baraitser
authors.forename: R M
authors.initials: RM
authors.lastname: Winter
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002972:Cleft Palate / Q000235:genetics; D003241:Consanguinity; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008297:Male; D008334:Mandible / Q000002:abnormalities; D013577:Syndrome