Kehitysvammahuollon tietopankki
 | Kehitysvammaisuus, epilepsia ja synnynnäinen kilpirauhasen vajaatoiminta |
Harvinainen, peittyvästi periytyvä oireyhtymä on levinnein arabimaissa ja Israelissa. Sanjad ja Sakati kuvasivat sen 1988. Geenivirhe löydettiin v. 1998.
Lisätietoja:
HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM
SYNDROME; HRD, OMIM,Victor A.McKusick et al.
TUBULIN-SPECIFIC CHAPERONE E; TBCE, OMIM, Stefanie A. Nelson et al.
1q42-q43, TBCE to 1q43, MTR, MIM Gene map
Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes, Stanley Jablonski 1999
A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features, Sanjad SA, Sakati NA, Abu-Osba YK, Kaddoura R, Milner RD (1991), PubMed
Congenital
hypoparathyroidism, seizure, extreme growth failure with developmental delay and
dysmorphic features--another case of this new syndrome, (1992), Kalam MA, Hafeez
W, PubMed
Short stature, mental retardation, and hypoparathyroidism: a new syndrome, Richardson RJ, Kirk JM (1990), PubMed
Syndrome of hypoparathyroidism, growth hormone deficiency, and multiple minor anomalies, Marsden D, Nyhan WL, Sakati NO (1994), PubMed
The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay--a report of six patients, Hershkovitz E, Shalitin S, Levy J, Leiberman E, Weinshtock A, Varsano I, Gorodischer R (1995), PubMed
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome, Parvari R, Hershkovitz E, Grossman N. et al (2002), PubMed
Hypoparathyroidism, retarded growth and development, and dysmorphism or Sanjad-Sakati syndrome: an Arab disease reminiscent of Kenny-Caffey syndrome, AHMAD S TEEBI, J Med Genet 2000
Hypoparathyroidism, eMedicine
KILPIRAUHASEN SAIRAUDET, Lastenendokrinologit, nettisivu 2004
Erkki Metsänen 9.4.2000
Kari Viitapohja 2.1.2003, 28.6.2004