Behavioral features in young adults with FG syndrome (Opitz-Kaveggia syndrome). (49/113)

 (+info)

Sonographic depiction of the fetal anus and its utility in the diagnosis of anorectal malformations. (50/113)

OBJECTIVES: The purpose of this study was to describe the sonographic appearance of the fetal anus and its usefulness in diagnosis of anal atresia. METHODS: An anomaly scan was performed in 13,150 patients over 8 years. Gestational ages ranged from 16 to 38 weeks. A tangential scan of the fetal perineum was performed. The anus was seen as a hypoechoic ring representing the wall of the anal canal with a central echogenic dot representing the lumen. This appearance was seen posterior to the external genitalia. If there was failure to see this appearance, a coronal scan of the fetal pelvis was done to look for the anal canal in contiguity with the rectum and to confirm its extension up to perineum. Failure to see these two features was considered diagnostic of anal atresia. RESULTS: On the basis of these criteria, anal atresia was diagnosed in 17 fetuses. Sixteen of these fetuses also had other associated anomalies. The appearance of the anus was useful for ruling out anal atresia in 2 fetuses with a dilated colon containing echogenic meconium balls. CONCLUSIONS: The anus is visible on a tangential scan of the fetal perineum. It can be seen routinely during an anomaly scan to diagnose or rule out anal atresia.  (+info)

Spontaneous bowel perforation in a neonate with anorectal malformation. (51/113)

 (+info)

The right sided syndrome, congenital absence of kidney and testis. (52/113)

Unilateral renal agenesis (URA) is a developmental defect associated with ano-malies of the genitourinary system. The associations vary from absence of testis alone to high anorectal anomalies in other patients. We present two interesting patients with URA, encountered recently. Our first case was diagnosed with URA at the age of 11 years, which was detected on sonography, when he presented with pain abdomen. The presence of an epididymal cyst masked the absence of ipsilateral testes leading to delay in the diagnosis. Our second case was diagnosed with URA during the neonatal period when he presented with anorectal agenesis. He underwent abdomino-anal pull-through operation and later clinical course was complicated by recurrent cystitis, secondary vesicoureteral reflux and hydroureteronephrosis of solitary kidney, progressing to chronic kidney disease.  (+info)

Parental risk factors and anorectal malformations: systematic review and meta-analysis. (53/113)

 (+info)

Evaluation of the perianal muscular complex in the prenatal diagnosis of anorectal atresia in a high-risk population. (54/113)

 (+info)

Urological anomalies in anorectal malformations in The Netherlands: effects of screening all patients on long-term outcome. (55/113)

 (+info)

VACTERL/VATER Association. (56/113)

 (+info)