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.
Yapicioğlu
H
H
Department of Pediatrics, Division of Neonatology, Cukurova University, Faculty of Medicine, Adana, Turkey. yyhacer@hotmail.com
Satar
M
M
Yildizdaş
D
D
Narli
N
N
Suleymanova
D
D
Tutak
E
E
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics*