A new type of lethal short-limbed dwarfism.
Details are presented of a most unusual osteo-chondrodysplasia which presents with lethal neonatal short-limbed dwarfism, defective ossification and nodular calcification within cartilage. The features resemble one case previously described in the literature. We wish to present a new type of lethal short-limbed dwarfism which has presented in one family. Three affected infants have been born to unaffected parents who are first cousins. The third affected infant is reported in detail and the radiological signs of all three sibs are summarised in Table 1. There are also two healthy children, a boy and a girl, born at term.
Nairn
E R
ER
Department of Histopathology, Children's Hospital, Birmingham, UK.
Chapman
S
S
D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging*; D011859:Radiography; D013796:Thanatophoric Dysplasia / Q000000981:diagnostic imaging* / Q000473:pathology