title: Chondrodysplasia punctata: another possible X-linked recessive case.
abstract: A 22-week fetus who had died in utero had a markedly hypoplastic nose and other facial abnormalities, short fingers, hypoplastic nails, and small phallus. Radiologically there was symmetrical cartilaginous stippling of the vertebral column, femoral heads, calcanei and elbows typical of chondrodysplasia punctata (CP), and metacarpal shortness and tiny pyramidal phalanges. The several causally different forms of CP are tabulated. Differential diagnosis suggests that the present case, which does not have limb shortness, could be a case of X-linked recessive brachytelephalangic chondrodysplasia punctata.
authors: Division of Medical and Molecular Genetics, Guy's Hospital, London, UK.
authors: C P
authors: CP
authors: Bennett
authors: A C
authors: AC
authors: Berry
authors: D J
authors: DJ
authors: Maxwell
authors: M J
authors: MJ
authors: Seller
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002806:Chondrodysplasia Punctata / Q000209:etiology / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005313:Fetal Death / Q000235:genetics*; D005385:Fingers / Q000002:abnormalities; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010413:Penis / Q000002:abnormalities; D014960:X Chromosome