Sanjad-Sakati syndrome is an autosomal recessive disorder characterized by congenital hypoparathyroidism, growth and mental retardation, and seizures.
|Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome|
Parvari R et al. (2002) Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.
Kelly TE et al. (2000) Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome lq42-43.
Kalam MA et al. (1992) Congenital hypoparathyroidism, seizure, extreme growth failure with developmental delay and dysmorphic features--another case of this new syndrome.
Courtens W et al. (2006) Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review.
Richardson RJ et al. (1990) Short stature, mental retardation, and hypoparathyroidism: a new syndrome.
Sanjad SA et al. (1991) A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.
Hershkovitz E et al. (1995) The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay--a report of six patients.
Marsden D et al. (1994) Syndrome of hypoparathyroidism, growth hormone deficiency, and multiple minor anomalies.
Parvari R et al. (1998) Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43.
Orphanet articleOrphanet ID 2323
OMIM.ORG articleOmim 241410
Wikipedia articleWikipedia EN (Sanjad-Sakati_syndrome)