Kenny-Caffey syndrome type 1 in an Egyptian girl.
作者信息
Metwalley Kotb Abbass, Farghaly Hekma Saad
机构信息
Department of Pediatrics, Pediatric Endocrinology Unit, Assiut Children University Hospital, Assiut, Egypt.
出版信息
Indian J Endocrinol Metab. 2012 Sep;16(5):827-9. doi: 10.4103/2230-8210.100645.
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.
摘要
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