title: Generalized chondrodysplasia punctata with shortness of humeri and brachymetacarpy: humero-metacarpal (HM) type: variation or heterogeneity?
abstract: We report on a girl with symmetrical rhizomelic shortness of the upper limbs and punctate epiphyseal calcifications noted at birth. Presumably she has normal height, but short nose, short hands, and normal mentation; and on roentgenograms short and wide humeri, symmetrical brachymetacarpy, especially of the 4th metacarpals, and hypoplastic distal phalanges, sagittal clefting of vertebral bodies, and punctate calcifications at various areas including the entire spine, sacrum, hands, feet, trachea, and thyroid cartilage. It is an apparently new syndrome of chondrodysplasia punctata (CP), quite distinct from the classic form (Conradi-Hünermann type), as well as the other well-defined forms of CP. We thus suggest the term chondrodysplasia punctata, humero-metacarpal (HM) type.
authors.affiliation: Simon Winter Center for Human Genetics, Bnai-Zion Medical Center, Haifa, Israel.
authors.forename: Z
authors.initials: Z
authors.lastname: Borochowitz
mesh_terms: D002675:Child, Preschool; D002806:Chondrodysplasia Punctata / Q000145:classification* / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D006811:Humerus / Q000002:abnormalities*; D008663:Metacarpus / Q000002:abnormalities*; D011859:Radiography; D013577:Syndrome