Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0017160 (gastroenteritis)
 11,398 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 4-year-old Saudi female child with extreme failure to thrive, striking dysmorphic features, developmental delay, congenital hypoparathyroidism, UTI, seizures, chronic otitis media, chronic non-specific gastroenteritis and repeated life-threatening infections was followed from birth. She was the product of first-cousin consanguineous marriage. She had striking facies with frontal prominence, deep-set eyes, depressed nasal bridge, beaked nose, long philtrum with thin upper lip, micrognathia, large floppy ears, bifid uvula, and growth retardation with SD score less than -2 for height, weight and head circumference. We believe these features which include congenital hypoparathyroidism, severe growth failure and developmental delay in the absence of chromosomal abnormality represent a newly described genetically determined syndrome.
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PMID:Congenital hypoparathyroidism, seizure, extreme growth failure with developmental delay and dysmorphic features--another case of this new syndrome. 139 80

Vitiligo is a common dermatological manifestation of obscure etiology, affecting mostly healthy people. It has also been observed in association with sunburn, various chemicals, repeated friction, physical trauma, and numerous systemic and cutaneous diseases. However, white discoloration of teeth in these patients has not yet been reported. We describe a 14-year-old boy with vitiligo who presented with white patches on the surface of his upper, central incisors. Medical history and laboratory tests excluded those complications documented in the literature known to be associated with white discoloration of the teeth, such as disturbances of calcium and phosphate metabolism (as in vitamin D refractory rickets), hypoparathyroidism, gastroenteritis, celiac disease, premature birth, hyperplasia of the enamel and prolonged ingestion during tooth formation of water containing excessive fluoride.
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PMID:[Vitiligo and white dental discoloration]. 156 67