Autosomal recessive form of Kenny-Caffey syndrome is caused by mutations of the TBCE gene. Clinical characteristics include hypoparathyroidism, hypocalcemia, and seizures. Radiological finding are cortical thickening and medullary stenosis.
Hypoparathyroidism | ||||
AP2S1 | ||||
CASR | ||||
GCM2 | ||||
GNA11 | ||||
Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome | ||||
Hypoparathyroidism-retardation-dysmorphism syndrome | ||||
Kenny-Caffey syndrome | ||||
TBCE | ||||
PTH | ||||
1. |
Parvari R et al. (2002) Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. |
2. |
Franceschini P et al. (1992) Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant. |
3. |
Bergada I et al. (1988) Kenny syndrome: description of additional abnormalities and molecular studies. |
4. |
Sarría A et al. (1980) [Diaphysary tubular stenosis (Kenny-Caffey's syndrome): presentation of four observations (author's transl)]. |
5. |
Tahseen K et al. (1997) Kenny-Caffey syndrome in six Bedouin sibships: autosomal recessive inheritance is confirmed. |
6. |
Sabry MA et al. (1998) Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. |
7. |
Diaz GA et al. (1998) The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43. |
8. |
OMIM.ORG article Omim 244460 |
9. |
Orphanet article Orphanet ID 2333 |
10. |
Wikipedia article Wikipedia EN (Kenny-Caffey_syndrome) |