Das Sanjad-Sakati-Syndrom ist eine autosomal rezessive Erkrankung. Sie ist charakterisiert durch kongenitalen Hypoparathyreoidismus mit Wachstumsstörungen. Neben einer geistigen Retardierung können auch epileptische Krämpfe auftreten.
Hypoparathyreoidismus | ||||
AP2S1 | ||||
CASR | ||||
GCM2 | ||||
GNA11 | ||||
HDR-Syndrom | ||||
Hypoparathyreoidismus-Retardierung-Dysmorphismus-Syndrom | ||||
TBCE | ||||
Kenny-Caffey-Syndrom | ||||
PTH | ||||
1. |
Parvari R et al. (2002) Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. |
2. |
Kelly TE et al. (2000) Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome lq42-43. |
3. |
Kalam MA et al. (1992) Congenital hypoparathyroidism, seizure, extreme growth failure with developmental delay and dysmorphic features--another case of this new syndrome. |
4. |
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. |
5. |
Richardson RJ et al. (1990) Short stature, mental retardation, and hypoparathyroidism: a new syndrome. |
6. |
Sanjad SA et al. (1991) A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features. |
7. |
Hershkovitz E et al. (1995) The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay--a report of six patients. |
8. |
Marsden D et al. (1994) Syndrome of hypoparathyroidism, growth hormone deficiency, and multiple minor anomalies. |
10. |
Orphanet article Orphanet ID 2323 |
11. |
OMIM.ORG article Omim 241410 |