Umbilical cyst due to patent urachus in a fetus with complete urorectal septum malformation sequence

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Urorectal septum malformation sequence in a newborn with VACTERL association.

Urorectal septum malformation sequence (URSMS) is an extremely rare anomaly, consists of multiple system anomalies including ambiguous genitalia, absence of a perineal opening, an imperforate anus, and urological, colonic and lumbosacral defects. We describe a newborn with characteristic URSMS who also had features of congenital varus deformity of leg, polydactyly, tracheo-oesophageal fistula, ...

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Concordant partial urorectal septum malformation sequence in monozygotic twins.

The urorectal septum malformation (URSM) sequence is defined as the absence of the perineal and anal opening in association with ambiguous genitalia and urogenital, colonic, and lumbosacral anomalies. The URSM sequence is usually lethal in the newborn period due to pulmonary hypoplasia resulting fromsevere oligohydramnios. The abnormalities of this condition are though to arise early in develop...

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Fetal enterolithiasis: prenatal sonographic and MRI diagnosis in two cases of urorectal septum malformation (URSM) sequence.

OBJECTIVES Enterolithiasis (multiple calcifications of intraluminal meconium) is a rare, prenatal ultrasonographic finding. In this study, our aim was to evaluate the prenatal diagnostic features and discuss the management of the patients. METHODS The data of two cases of prenatally diagnosed fetal enterolithiasis were collected from ultrasound scan, magnetic resonance imaging (MRI) and neona...

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A case report of aphallia with urorectal septum malformation sequence in a newborn: a very rarely seen condition

Aphallia (absence of penis) is an extremely rare abnormality which has rarely been described in medical literature and can be part of the urorectal septum malformation sequence (URSMS). URSMS has hardly been reported in medical literature and includes the absence of perineal and anal openings in association with ambiguous genitalia and urogenital, colonic, and lumbosacral anomalies. This case r...

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Prune Belly Syndrome with Overlapping Presentation of Partial Urorectal Septum Malformation Sequence in a Female Newborn with Absent Perineal Openings

Prune belly syndrome (PBS) is a rare congenital anomaly characterized in males by a triad of anomalous genitourinary tract, deficient development of abdominal wall muscles, and bilateral cryptorchidism. Although similar anomalies have been reported in females, by definition they do not full fill the classical triad. Urorectal septum malformation sequence (URSM) is a lethal condition characteriz...

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ژورنال

عنوان ژورنال: Journal of Pediatric Genetics

سال: 2015

ISSN: 2146-4596,2146-460X

DOI: 10.3233/pge-2012-011