title: Hypercalciuria and urolithiasis in a case of Costello syndrome.
abstract: 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.
authors: Department of Pediatrics, Jefferson Medical College, Thomas Jefferson University, duPont Hospital for Children, Wilmington, DE 19899, USA.
authors: F K
authors: FK
authors: Assadi
authors: C I
authors: CI
authors: Scott
authors: C P
authors: CP
authors: McKay
authors: L
authors: L
authors: Nicholson
authors: M
authors: M
authors: Cafone
authors: L
authors: L
authors: Hopp
authors: D A
authors: DA
authors: Fattori
mesh_terms: D000015:Abnormalities, Multiple / Q000378:metabolism*; D000293:Adolescent; D002118:Calcium / Q000652:urine*; D005260:Female; D006130:Growth Disorders / Q000378:metabolism*; D006801:Humans; D008607:Intellectual Disability / Q000378:metabolism*; D013577:Syndrome; D014545:Urinary Calculi / Q000209:etiology*
chemical_list: D002118:Calcium