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Behavioral features of CHARGE syndrome (Hall-Hittner syndrome) comparison with Down syndrome, Prader-Willi syndrome, and Williams syndrome.
Graham JM Jr, Rosner B, Dykens E, Visootsak J. Graham JM Jr, et al. Am J Med Genet A. 2005 Mar 15;133A(3):240-7. doi: 10.1002/ajmg.a.30543. Am J Med Genet A. 2005. PMID: 15637708
CHARGE syndrome, or Hall-Hitner syndrome (HHS), has been delineated as a common syndrome that includes coloboma, choanal atresia, cranial nerve dysfunction (particularly asymmetric facial palsy and neurogenic swallowing problems), characteristic ear abnormalities, deafness with h …
CHARGE syndrome, or Hall-Hitner syndrome (HHS), has been delineated as a common syndrome that includes coloboma, choanal atresia, cranial ne …
Dental aspects in patients with DiGeorge syndrome.
Toka O, Karl M, Dittrich S, Holst S, Holst A. Toka O, et al. Quintessence Int. 2010 Jul-Aug;41(7):551-6. Quintessence Int. 2010. PMID: 20614041
The phenotypic spectrum of this disorder includes congenital heart defects, immunodeficiency due to thymic hypoplasia or aplasia, transient or permanent hypocalcemia due to parathyroid hypoplasia or aplasia, developmental retardation, and psychiatric disorders. ...
The phenotypic spectrum of this disorder includes congenital heart defects, immunodeficiency due to thymic hypoplasia or aplasia, transient …
A patient with DiGeorge syndrome with spina bifida and sacral myelomeningocele, who developed both hypocalcemia-induced seizure and epilepsy.
Kinoshita H, Kokudo T, Ide T, Kondo Y, Mori T, Homma Y, Yasuda M, Tomiyama J, Yakushiji F. Kinoshita H, et al. Seizure. 2010 Jun;19(5):303-5. doi: 10.1016/j.seizure.2010.04.005. Epub 2010 Apr 28. Seizure. 2010. PMID: 20430655 Free article.
DiGeorge syndrome - a component of the 22q11 deletion syndrome - causes a disturbance in cervical neural crest migration that results in parathyroid hypoplasia. Patients can develop hypocalcemia-induced seizures. ...
DiGeorge syndrome - a component of the 22q11 deletion syndrome - causes a disturbance in cervical neural crest migration that results in …