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Hypomagnesemia with Secondary Hypocalcemia (HSH): a Case Report.
Zhao C, Lin Y, Jiang Z. Zhao C, et al. Clin Lab. 2023 Oct 1;69(10). doi: 10.7754/Clin.Lab.2023.230505. Clin Lab. 2023. PMID: 37844054
A month subsequent, the serum levels of Mg2+, Ca2+, potassium (K+), and phosphorus were 0.96 mmol/L, 2.52 mmol/L, 4.06 mmol/L, and 1.63 mmol/L, respectively. CONCLUSIONS: Primary HSH is an uncommon manifestation of parathyroid hypoplasia, clinically characterized by …
A month subsequent, the serum levels of Mg2+, Ca2+, potassium (K+), and phosphorus were 0.96 mmol/L, 2.52 mmol/L, 4.06 mmol/L, and 1.63 mmol …
Incidental finding of APC deletion in a child: double trouble or double chance? - a case report.
Rosina E, Rinaldi B, Silipigni R, Bergamaschi L, Gattuso G, Signoroni S, Guerneri S, Carnevali A, Marchisio PG, Milani D. Rosina E, et al. Ital J Pediatr. 2021 Feb 15;47(1):31. doi: 10.1186/s13052-021-00969-x. Ital J Pediatr. 2021. PMID: 33588901 Free PMC article.
BACKGROUND: 22q11.2 deletion syndrome is one of the most common genomic disorders, characterized by the variable presence of facial dysmorphisms, congenital cardiac defects, velopharyngeal insufficiency/cleft palate, thymic hypoplasia/aplasia, immunodeficiency, parathyroid …
BACKGROUND: 22q11.2 deletion syndrome is one of the most common genomic disorders, characterized by the variable presence of facial dysmorph …
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 …
Di George anomaly and velocardiofacial syndrome.
Stevens CA, Carey JC, Shigeoka AO. Stevens CA, et al. Pediatrics. 1990 Apr;85(4):526-30. Pediatrics. 1990. PMID: 2314965
The Di George anomaly involves developmental defects of the third and fourth pharyngeal pouches, resulting in thymic and parathyroid hypoplasia and cardiac defects. The cases of individuals in two families help substantiate the notion that the Di George anomaly occu …
The Di George anomaly involves developmental defects of the third and fourth pharyngeal pouches, resulting in thymic and parathyroid …
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 …