[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.
Vandevelde
M F
MF
Service de pédiatrie et génétique médicale, Hôpital Claude-Huriez, CHRU, Lille, France.
Boez
E
E
Chauviére
A
A
Farriaux
J P
JP
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.