Name: PubCaseFinder
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Proximal renal tubular acidosis

Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.

Total: 1

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PMID (PMCID)
8434624	FEMALE	Infant
	Syndrome of cleft palate, microcephaly, large ears, and short stature (Say syndrome).
	Abu-Libdeh B, Fujimoto A, Ehinger M. Am J Med Genet. 1993;45(3):358-60.
	This is a report of a 13-month-old girl with cleft palate, short stature, microcephaly, sparse scalp hair, large abnormally shaped ears, small hands with tapering fingers, delayed bone age, unusual dermatoglyphics, proximal renal tubular acidosis with cystic dysplasia of the kidneys, and developmental delay.