title: Brachytelephalangic chondrodysplasia punctata with distinctive phenotype and normal karyotype.
abstract: We present two sibs with a distinctive phenotype and with stippled calcifications of the tarsal bones and sacro-coccygeal spine. They represent an apparently "new" form of chondrodysplasia punctata.
authors.affiliation: University Hospital, Hradec Kralova, Czech Republic.
authors.forename: J
authors.initials: J
authors.lastname: Zizka
authors.forename: J
authors.initials: J
authors.lastname: Charvat
authors.forename: A
authors.initials: A
authors.lastname: Baxova
authors.forename: P
authors.initials: P
authors.lastname: Balicek
authors.forename: K
authors.initials: K
authors.lastname: Kozlowski
mesh_terms: D000293:Adolescent; D002806:Chondrodysplasia Punctata / Q000235:genetics* / Q000473:pathology*; D003050:Coccyx / Q000002:abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D007870:Leg Length Inequality / Q000473:pathology; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D012447:Sacrum / Q000002:abnormalities; D013639:Tarsal Bones / Q000002:abnormalities