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 cardiomyopathy. We report a 16-year-old adolescent female with Costello syndrome who presents with hypercalciuria and urolithiasis.
Assadi
F K
FK
Department of Pediatrics, Jefferson Medical College, Thomas Jefferson University, duPont Hospital for Children, Wilmington, DE 19899, USA.
Scott
C I
CI
McKay
C P
CP
Nicholson
L
L
Cafone
M
M
Hopp
L
L
Fattori
D A
DA
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*
D002118:Calcium