title: Dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis.
abstract: We report on a father and 2 children (a living 4-year-old girl and an aborted 18-week-old fetus) with a dominantly inherited form of mesomelic shortness of stature with severe ankle, knee, and elbow involvement. Skeletal abnormalities included brachymetacarpy and brachymetatarsy of the 3rd to 5th rays, synostoses in these bones, synostoses of metacarpals and metatarsals II to V with the corresponding carpal/tarsal bones, partial fusion in the proximal row of carpal bones, and mild vertebral anomalies. Father and daughter also had downslanted palpebral fissures, beaked nose, hypertelorism, ptosis, microretrognathia, and transverse agenesis of the soft palate. Abnormally short umbilical cord with unusually long skin coverage was present. Mesomelic shortness worsens with time, with progressive curvature of the forearm. This condition appears to represent a previously undescribed MCA/dysostosis syndrome.
authors.affiliation: Centre for Human Genetics, Liège University, Belgium.
authors.forename: A
authors.initials: A
authors.lastname: Verloes
authors.forename: A
authors.initials: A
authors.lastname: David
mesh_terms: D000015:Abnormalities, Multiple; D002675:Child, Preschool; D005260:Female; D005333:Fetus; D006801:Humans; D017880:Limb Deformities, Congenital; D008297:Male; D010160:Palate, Soft / Q000002:abnormalities; D013580:Synostosis; D014472:Umbilicus / Q000002:abnormalities