Total: 4 |
|
PMID (PMCID) | ||
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26489877 (4944343) |
MIXED_SAMPLE | Infant |
"FISHed" out the diagnosis: A case of DiGeorge syndrome. | ||
Bajaj S, Thombare TS, Tullu MS, Agrawal M. J Postgrad Med. 2016;62(2):118-23. |
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Our patient presented with congenital heart disease (CHD: Tetralogy of Fallot), hypocalcemia, hypoparathyroidism, and facial dysmorphisms. | ||
22932096 |
FEMALE | Adult |
Delayed diagnosis of 22q11.2 deletion syndrome in an adult Chinese lady. | ||
Shea YF, Lee CH, Gill H, Chow WS, Lam YM, Luk HM, Lam ST, Chu LW. Chin Med J (Engl). 2012;125(16):2945-7. |
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We report a 32 year-old Chinese lady with history of tetralogy of Fallot, presented to us with chest pain due to hypocalcemia secondary to hypoparathyroidism. | ||
15214756 |
MALE | Infant, Newborn |
Asymmetric crying facies associated with congenital hypoparathyroidism and 22q11 deletion. | ||
Akcakus M, Gunes T, Kurtoglu S, Cetin N, Ozkul Y, Narin N, Atabek ME, Ugras R. Turk J Pediatr. 2004;46(2):191-3. |
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We report a newborn infant who had asymmetric crying facies associated with congenital hypoparathyroidism, severe neonatal hypocalcemia and tetralogy of Fallot. | ||
10905392 |
FEMALE | Infant, Newborn |
Transient congenital hypoparathyroidism and 22q11 deletion. | ||
Garcia-Garcia E, Camacho-Alonso J, Gomez-Rodriguez MJ, del Castillo E, Martinez-Aedo , Lopez-Siguero JP. J Pediatr Endocrinol Metab. 2000;13(6):659-61. |
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We report a patient with transient congenital hypoparathyroidism, with severe neonatal hypocalcemia and spontaneous resolution in infancy, tetralogy of Fallot and thymic hypoplasia. |