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congential anomaly

Alexandra Drought, Ruwan Wimalasundera, Susan Holder
The finding of bilateral congenital cataracts in the fetus is rare. We report bilateral congenital cataracts detected during the routine second trimester anomaly scan, which subsequently were found to be associated with other congenital anomalies and the parents opted for a termination of pregnancy. At post-mortem, Muscle-Eye Brain disease or Walker-Warburg Syndrome was considered likely, which are autosomal recessive congenital muscular dystrophy disorders associated with cerebral, cerebellar, muscle and eye anomalies...
August 2015: Ultrasound: Journal of the British Medical Ultrasound Society
Suresh Bhat, Manjunatha Sathyanarayanaprasad, Fredrick Paul
Exstrophy of the urinary bladder is a rare congential anomaly. The most common malignancy is an adenocarcinoma in these patients. Squamous cell carcinoma (SCC) occurring in these patients is uncommon and usually has a bad prognosis. The management of these patients is challenging and may require extensive reconstructive procedures. We report a case of SCC in a corrected bladder exstrophy patient who presented with an ulcerated mass in the lower abdomen extending to the base of the penis. Six months after extensive radical ablative surgery with reconstruction of the abdominal wall, the patient remained free of recurrence...
April 2015: Indian Journal of Urology: IJU: Journal of the Urological Society of India
Zheng Li, Xin Yu, Jianxiong Shen, Jinqian Liang
Herlyn-Werner-Wunderlich syndrome (HWWS) is a congenital Müllerian duct anomaly characterized by uterine didelphys, obstructed hemivagina, and ipsilateral renal agenesis. Little is reported about spinal deformity associated with this syndrome. This study presents a case of scoliosis occurring in the setting of HWWS and explores the possible association between the 2 diseases. A previously unreported scoliosis in HWWS is described. The patient is a 12-year-old Chinese female with scoliosis that underwent a posterior correction at thoracic 5-thoracic 12 (T5-T12) levels, using the Moss-SI (Johnson & Johnson, American) spinal system...
December 2014: Medicine (Baltimore)
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