title: Kenny-Caffey syndrome type 1 in an Egyptian girl.
abstract: Kenny-Caffey syndrome type 1 (KCS1) (OMIM 244460) is a rare syndrome characterized by growth retardation, uniformly small slender long bones with medullary stenosis, thickened cortex of the long bones, hypocalcemia possibly with tetany at an early age and normal intelligence. The primary outcome of KCS1 is short stature. We present here an Egyptian girl aged 32 months with typical feature of KCS1.
authors.affiliation: Department of Pediatrics, Pediatric Endocrinology Unit, Assiut Children University Hospital, Assiut, Egypt.
authors.forename: Kotb Abbass
authors.initials: KA
authors.lastname: Metwalley
authors.forename: Hekma Saad
authors.initials: HS
authors.lastname: Farghaly
keywords: Dysmorphic; Kenny-Caffey syndrome type 1; Sanjad Sakati Syndrome; growth retardation; hypoparathyroidism