Hypercalciuria and urolithiasis in a case of Costello syndrome

Costello syndrome is characterized by postnatal growth deficiency, mental retardation, curly hair, coarse characteristic face, and loose skin of hands and feet. Patients with this syndrome have a high incidence of cardiac involvement, including arrhythmia, atrial septal defect, and hypertrophic card...

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Veröffentlicht in:	Pediatric nephrology (Berlin, West) West), 1999-01, Vol.13 (1), p.57-59
Hauptverfasser:	ASSADI, F. K, SCOTT, C. I, MCKAY, C. P, NICHOLSON, L, CAFONE, M, HOPP, L, FATTORI, D. A
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - metabolism Adolescent Biological and medical sciences Calcium - urine Complex syndromes Female Growth Disorders - metabolism Humans Intellectual Disability - metabolism Kidneys Medical genetics Medical sciences Nephrology. Urinary tract diseases Syndrome Urinary Calculi - etiology Urinary system involvement in other diseases. Miscellaneous
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Zusammenfassung:	Costello syndrome is characterized by postnatal growth deficiency, mental retardation, curly hair, coarse characteristic face, and loose skin of hands and feet. Patients with this syndrome have a high incidence of cardiac involvement, including arrhythmia, atrial septal defect, and hypertrophic cardiomyopathy. We report a 16-year-old adolescent female with Costello syndrome who presents with hypercalciuria and urolithiasis.
ISSN:	0931-041X 1432-198X
DOI:	10.1007/s004670050563