Open AccessKenny-Caffey syndrome type 1 in an Egyptian girl
Author(s) -
Kotb Abbass Metwalley,
Hekma Saad Farghaly
Publication year - 2012
Publication title -
indian journal of endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.456
H-Index - 28
eISSN - 2230-9500
pISSN - 2230-8210
DOI - 10.4103/2230-8210.100645
Subject(s) - girl , medicine , short stature , medullary cavity , growth retardation , tetany , tall stature , pediatrics , anatomy , psychology , genetics , pregnancy , developmental psychology , biology
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.