[Diastrophic dwarfism].
Description of a male and six female patients with diastrophic dwarfism. In one case the observation was possible since birth. The typical clinical features and roentgenographic characteristics of this epi-, metaphyseal dysostosis with an autosomal recessiv mode of inheritance are summarized and compared with reported cases in the medical literature. It is important to establish the diagnosis early in order to apprise the parents of the prognosis and the likelihood of subsequent children being affected. This demonstrates our report of two affected siblings in one family and three affected siblings in another family. In one case we found an aplasia of both patellae, this finding was not described in the combination with this entity until now.
D000293:Adolescent; D001842:Bone and Bones / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D011859:Radiography
Der diastrophische Zwergwuchs.