Congenital bowing of the long bones in two fetuses presenting features of Stüve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2.
We report two fetuses with congenital bowing of the long bones. Clinical and radiological features led us to consider two conditions: the Stüve-Wiedemann syndrome and the neonatal Schwartz-Jampel syndrome type 2. Similarities between the two syndromes are discussed.
Sigaudy
S
S
Department of Medical Genetics, Hôpital de la Timone, Marseille, France.
Moncla
A
A
Fredouille
C
C
Bourlière
B
B
Lambert
J C
JC
Philip
N
N
D000328:Adult; D003241:Consanguinity; D003937:Diagnosis, Differential; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008875:Middle Aged; D010009:Osteochondrodysplasias / Q000151:congenital* / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal