De la Chapelle dysplasia (atelosteogenesis type II): case report and review of the literature [corrected].
We report a male infant with de la Chapelle dysplasia (atelosteogenesis type II), a skeletal dysplasia characterized by severe shortening of the long bones, deficient ossification of distinct parts of the skeleton, cleft palate and neonatal death from asphyxia. This is a rare condition with only 10 patients described in the literature. We report the clinical, radiographical and histopathological data and summarize the data on the total of 11 patients. Differential diagnosis with diastrophic dysplasia and atelosteogenesis (type I) is discussed. On clinical and histological grounds we hypothesize that de la Chapelle dysplasia and diastrophic dysplasia are closely related. The mode of inheritance is autosomal recessive.
Schrander-Stumpel
C
C
Department of Clinical Genetics, Academic Hospital Maastricht, The Netherlands.
Havenith
M
M
Linden
E V
EV
Maertzdorf
W
W
Offermans
J
J
van der Harten
J
J
D000328:Adult; D001238:Asphyxia Neonatorum; D001344:Autopsy; D002972:Cleft Palate / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D004200:Diseases in Twins; D017809:Fatal Outcome; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D011859:Radiography