title: Congenital bowing of the long bones in two fetuses presenting features of Stüve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2.
abstract: 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.
authors.affiliation: Department of Medical Genetics, Hôpital de la Timone, Marseille, France.
authors.forename: S
authors.initials: S
authors.lastname: Sigaudy
authors.forename: A
authors.initials: A
authors.lastname: Moncla
authors.forename: C
authors.initials: C
authors.lastname: Fredouille
authors.forename: B
authors.initials: B
authors.lastname: Bourlière
authors.forename: J C
authors.initials: JC
authors.lastname: Lambert
authors.forename: N
authors.initials: N
authors.lastname: Philip
mesh_terms: 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