title: A case of Schwartz-Jampel syndrome with cleft palate.
abstract: Schwartz-Jampel syndrome is a rare inherited autosomal recessive disorder characterized by generalized myotonia, joint contractures, skeletal abnormalities and facial dysmorphism. The gene defect involves the 1p34-p36.1 region of chromosome 1. Also, one of the candidate genes for orofacial clefting is the 1p36 region. Cleft palate is the most common congenital anomaly in the head and neck. Despite both diseases share a genetic defect in chromosome 1p36 region, the association of both conditions has not yet been investigated. Feeding problems due to the presence of the cleft may add to the growth retardation that is already present in those patients, so palatoplasty is mandatory. We described a case of Schwartz-Jampel syndrome with cleft palate.
authors.affiliation: Department of Otolaryngology, Faculty of Medicine, Cairo University, Egypt. mosabeez@yahoo.com
authors.forename: Mosaad
authors.initials: M
authors.lastname: Abdel-Aziz
authors.forename: Noha A
authors.initials: NA
authors.lastname: Azab
mesh_terms: D002675:Child, Preschool; D002972:Cleft Palate / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics*