Genotypic/phenotypic heterogeneity of Kenny-Caffey syndrome.

Kenny-Caffey syndrome without the CATCH 22 deletion.

Kenny-Caffey syndrome. Case report and literature review.

Kenny-Caffey Syndrome 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, hyperphosphatemia, ocular abnormalities, and normal intelligence. We report a child with Kenny-Caffey Syndrome and idiopathic hypoparathyroidism and present a review of the...

Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait.

We studied 21 patients with Sanjad-Sakati syndrome (SSS) from 16 families. Parental consanguinity was recorded in 2 families (12.5%). All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism. Medullary stenosis was detected in 2 patients. Cytogenetic and fluorescent in ...

Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster.

We report four sibs with Kenny-Caffey syndrome in a consanguineous Bedouin family. The first two died in the neonatal period while the remaining affected brother and sister had all the characteristic clinical, biochemical, and radiological abnormalities of the syndrome. These included severe pre- and postnatal growth retardation, cortical thickening of the tubular bones with medullary stenosis,...

Mother-to-daughter transmission of Kenny-Caffey syndrome associated with the recurrent, dominant FAM111A mutation p.Arg569His.

To the Editor : Kenny–Caffey syndrome (KCS) is a rare condition associated with short stature, cortical thickening of tubular bones, delayed closure of the fontanelle, ocular and dental anomalies, and variable low serum calcium. Recently, Unger et al. found that FAM111A is responsible for the autosomal dominant form (type 2; OMIM 127000) (1). Little is known about FAM111A and its function. Its ...