Congenital bowing of the long bones in two fetuses presenting features of Stüve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2

S Sigaudy; A Moncla; C Fredouille; B Bourlière; J C Lambert; N Philip

doi:10.1097/00019605-199810000-00004

Congenital bowing of the long bones in two fetuses presenting features of Stüve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2

Clin Dysmorphol. 1998 Oct;7(4):257-62. doi: 10.1097/00019605-199810000-00004.

Authors

S Sigaudy¹, A Moncla, C Fredouille, B Bourlière, J C Lambert, N Philip

Affiliation

¹ Department of Medical Genetics, Hôpital de la Timone, Marseille, France.

PMID: 9823491
DOI: 10.1097/00019605-199810000-00004

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.

Publication types

Case Reports
Comparative Study

MeSH terms

Adult
Consanguinity
Diagnosis, Differential
Female
Genes, Recessive
Humans
Male
Middle Aged
Osteochondrodysplasias / congenital*
Osteochondrodysplasias / diagnosis*
Osteochondrodysplasias / genetics
Pedigree
Pregnancy
Syndrome
Ultrasonography, Prenatal