Genital anomaly

Mental retardation. Cbnunatography, (E5, 12, FI7, H17, seizures and con- podtive urinary H18, M8. R9, 841) genital anomalies nitroiwusdde test (treated with py-ridoxine)... 

Periodic screening US is reconunended in children with characteristics that are known to be associated with renal benign or malignant tumors (aniridia, hemihypertrophy, Drash syndrome, Beck-with-Wiedemann syndrome, tuberous sclerosis). In patients with malformation known to be associated with renal abnormality (the VATER association, imperforate anus, internal genital anomalies, Fanconi anemia), one postnatal US examination is recommended. However, abnormal external ears, unique umbilical artery, hypospadias, and undescended testis have not been proven to be associated with renal malformation and do not represent indications for renal screening (Currarino et al. 1993). 

Cryptophthalmos syndrome (Fraser syndrome) Cryptophthahnia, cleft lip/palate, genital anomalies, atresia of ear cannal, syndactyly AR (219000) FRASI and FREM2... 

The contralateral kidney may be abnormal in up to 50% of patients (Malek et al. 1971). There is a 10% incidence of contralateral renal agenesis. In up to 70% of children with pelvic kidney there is associated VUR (Kramer and Kelalis 1984). In most cases of renal ectopy the adrenal gland is in normal position. Genital anomalies were found ranging from 15% of males to 75% of females (Thompson and Pace 1937 Downs et al. 1973). Skeletal anomalies occur in up to 50% of children, cardiovascular lesions were found in 9 out of 21 children (Malek et al. 1971) and gastrointestinal abnormalities in one-third of patients (Ritchey 1992). 

Lower Urinary Tract Anomalies of Urogenital Sinus and Female Genital Anomalies 139... 

For all other anomalies, especially multicystic dysplastic kidney, renal ectopia, or unilateral agenesis, the workup should also include US and eventually a VCU in order to detect ipsi- or contralateral VUR, which would require prophylactic chemotherapy (AxiYEHetal. 1993 Flack and Bellinger 1993 Selzman and Elder 1995 Ismaili et al. 2005). Also of interest is to search for associated genital anomalies on pelvic ultrasound (Table 13.5) (Riccabona et al. 2006). 

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