Desbuquois syndrome: three further cases and review of the literature.
We report three further patients with similar clinical signs to those described by Desbuquois et al. (Desbuquois G, Grenier B, Michel J, Rossignol C (1966): Arch Fr Pédiatr 23; 573-587) Two of the patients were born to consanguineous parents, confirming autosomal recessive inheritance of this condition. The patients presented with micromelic short stature, flat midface, irregular ossification of the vertebral bodies and an advanced bone age.
Gillessen-Kaesbach
G
G
Institut für Humangenetik, Universitätsklinikum Essen, Germany.
Meinecke
P
P
Ausems
M G
MG
Nöthen
M
M
Albrecht
B
B
Beemer
F A
FA
Zerres
K
K
D000015:Abnormalities, Multiple; D001827:Body Height; D002675:Child, Preschool; D003241:Consanguinity; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D013131:Spine / Q000002:abnormalities; D013577:Syndrome