Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome is a multiple congenital anomaly syndrome that is considered to be autosomal recessive although no genetic defect has yet been identified. In a consanguineous Saudi family, we have identified four patients who meet the diagnostic criteria of 3C syndrome and who also have alopecia, camptodactaly and significant renal involvement. Interestingly, two otherwise normal female siblings have unilateral renal agenesis only. This report expands the phenotypic spectrum of 3C syndrome.
During a 2-month period, 78 neonates admitted to our Special Care Unit (SCU) were screened for hematuria by dipstick and microscopic examination within 48 hours of admission. 63 healthy full-term neonates were similarly screened. Hematuria was not found in any healthy full-term neonate but was present in 62% of those in the SCU. None with hematuria had enlargement of the kidney by abdominal palpation, abnormal genitalia or progressed to have significant elevation of BP, proteinuria, BUN or serum creatinine. The hematuria cleared within 2 weeks of birth in all patients. Among the babies requiring special care, those with hematuria had lower gestational age (GA), lower birth weight (BW) and lower Apgar scores at 1 and 5 minutes (AS1 and ASS). All babies GA S 3 0 weeks or BWS1500 grams (18% of SCU admissions) had microscopic hematuria. We conclude that transient microscopic hematuria is common among neonates requiring special care, and that it appears to be of no consequence in the absence of other evidence of renal or urologic disease. SCU BABIES c' Hematuria Hematuria UP1 IN GIRLS: COMPARISON OF BLADDER WASHOUT LOCALI-COGNITIVE FUNCTIONS(CF) IN CHILDREN ON CHRONIC
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