Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p119 | (1) | ICCBH2019

A novel mutation in FAM111A gene in child with Kenny-Caffey syndrome type 2 presenting with short statue, medullary stenosis and hypoparathyroidism

Srilanchakon Khomsak , Supornsilchai Vichit , Suphapeetiporn Kanya

Background: Congenital hypoparathyroidism in children is a condition with diverse genetic etiologies. Kenny-Caffey syndrome (KCS) is a rare genetic disorder characterized by hypoparathyroidism, short stature, cortical thickening and medullary stenosis of the tubular bone and dysmorphic features including micrognathia, prominent forehead and eye abnormalities. The autosomal dominant form of KCS [KCS type 2(KCS2)] is differenced from autosomal recessive form of KCS [KCS type 1 (...