Stüve-Wiedemann syndrome

Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.

Bowing of the long bones

A bending or abnormal curvature of a long bone.


Total: 2

                       


(per page)
PMID (PMCID)
10826618
 FEMALE Infant, Newborn
Congenital bowing of the long bones associated with camptodactyly, talipes equinovarus and agenesis of the corpus callosum.
Al-Gazali LI, Bakir M, Hamid ZM, Nath R, Haas D.
Clin Dysmorphol. 2000;9(2):93-7.
We report a baby with congenital bowing of the long bones, camptodactyly, talipes equinovarus and radiological features resembling both Stuve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2.
9823491
 MIXED_SAMPLE Adult
Congenital bowing of the long bones in two fetuses presenting features of Stuve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2.
Sigaudy S, Moncla A, Fredouille C, Bourliere B, Lambert JC, Philip N.
Clin Dysmorphol. 1998;7(4):257-62.
Congenital bowing of the long bones in two fetuses presenting features of Stuve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2.