Brachytelephalangic chondrodysplasia punctata with distinctive phenotype and normal karyotype.
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.
Zizka
J
J
University Hospital, Hradec Kralova, Czech Republic.
Charvat
J
J
Baxova
A
A
Balicek
P
P
Kozlowski
K
K
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