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.

SUBMITTER: Metwalley KA 

PROVIDER: S-EPMC3475915 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature