Schwartz-Jampel syndrome: three pediatric case reports.
Schwartz-Jampel syndrome is a heterogeneous autosomal recessive syndrome defined by myotonia, short stature, bone dysplasia and growth retardation. Three types have been described: type 1A, usually recognized in childhood, with moderate bone dysplasia; type 1B similar to type 1A but recognizable at birth, with more prominent bone dysplasia and type 2, a rare, more severe form with increased mortality in the neonatal period. In this paper we report three pediatric cases, one with neonatal manifestation.
Department of Pediatrics, Division of Neonatology, Cukurova University, Faculty of Medicine, Adana, Turkey. yyhacer@hotmail.com
H
H
Yapicioğlu
M
M
Satar
D
D
Yildizdaş
N
N
Narli
D
D
Suleymanova
E
E
Tutak
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics*