[Pseudo-achondroplasia: study of a familial case].
The authors report on a family in which pseudoachondroplasia is of autosomal dominant inheritance. They discuss the radiologic evolution and the apparent genetic heterogeneity of this severe dwarfism.
Service de pédiatrie et génétique médicale, Hôpital Claude-Huriez, CHRU, Lille, France.
M F
MF
Vandevelde
E
E
Boez
A
A
Chauviére
J P
JP
Farriaux
D000130:Achondroplasia / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D011859:Radiography; D013997:Time Factors
Pseudo-achondroplasie: étude d'un cas familial.