A case report of complete penoscrotal transposition and associated anomalies in a newborn

25. Complete penoscrotal transposition and bilateral renal cystic dysplasia

Transposición penoescrotal completa: presentación de dos casos y revisión de la literatura

We report on a boy born with complete penoscrotal transposition, normal scrotum, twisted penile shaft with hypoplastic penile urethra, meatal stenosis, normal bladder, and bilateral cystic dysplastic kidneys. The patient died of renal failure at 2.5 months. This is the 13th reported case of complete penoscrotal transposition with normal scrotum. The possible pathogenesis is discussed and the literature is reviewed.

Association familiale d'une transposition pénoscrotale et diphallia (pénis double) à une aplasie rotulienne

We present a case of a child with del(13) (q31.1qter), VACTERL association, and penoscrotal transposition. Deletion of the distal long arm of chromosome 13 is associated with variable phenotypes. These phenotypes are divided into three clusters; each cluster represents a specific deleted segment of 13q. Individuals with deletions of a critical region at 13q32 have multiple congenital malformations that include components of the VACTERL association. Our patient had all six manifestations of VACTERL association. In addition, he had complete penoscrotal transposition, a unique malformation reported rarely in VACTERL association and only twice previously in deletion of distal 13q. We reviewed all reported cases of distal 13q deletions to date. Of these 137 patients, 15 could be classified into the VACTERL association. Ours was the only patient with distal 13q deletion and all VACTERL association features and also the only one with tracheoesophageal fistula. Neither holoprosencephaly nor the other central nervous system malformations that have been seen in individuals with distal 13q deletions were apparent in him. The patient presented here appears to be unique among individuals with distal 13q deletion. His cluster of malformations strengthens the argument that distal 13q deletion is a cause for VACTERL association, and that this causal relationship implies a syndromic form of VACTERL. In addition, this case and those ascertained from the literature suggest that penoscrotal transposition should be considered part of both the distal 13q-deletion syndrome and some forms of VACTERL association.

Penoscrotal transposition is an extremely rare congenital anomaly of the external male genitalia, characterized by malposition of the penis in relation to the scrotum. There are two types of penoscrotal transposition variants, complete and incomplete. In this case report, an 11-year-old boy with complete penoscrotal transposition is described with radiological and physical examination findings.

Penoscrotal transposition is a rare congenital abnormality. We report a case presenting prenatally with ambiguous genitalia and renal anomaly on obstetric ultrasound and fetal MRI and discuss the postnatal examination and autopsy findings. We present a review of the literature, including associated gene abnormalities.

Potter’s Syndrome is a rare congenital malformation which is an atypical physical appearance of the foetus or neonate due to Oligohydramnios experienced in the womb with distinctive facial characteristics. Oligohydramnios is the cause of the various deformities observed in Potter’s Sequence. It is characterised by bilateral renal agenesis, pulmonary hypoplasia, and skeletal defects of the neonate as a direct result of lack of amniotic fluid. Congenital pouch colon (CPC) is an extremely rare variant of anorectal malformation (ARM), in which varying lengths of the colon is replaced by a dilated pouch accompanied by a fistula communicating with the genitourinary tract. Complete Penoscrotal Transposition (CPST) is a rare and unusual malformation in which the scrotum is located cephalic to the penis. It is associated with major and often life threatening malformations. The present case has multiple malformations which include, potter’s syndrome, congenital pouch colon in omphalocele and complete penoscrotal transposition. The aim of this study was to determine the incidence, prevalence of these multiple malformations according to anatomical localization. This complex anomaly is very rare and interesting. Survival is extremely rare. In view of prognosis early diagnosis allows for earlier and less traumatic therapeutic abortion.

Complete penoscrotal transposition is an extremely rare congenital anomaly and is usually associated with other urinary system abnormalities. Prenatal diagnosis is feasible by demonstrating perineal anatomy and its relation with scrotum and phallus. We describe two prenatal cases presenting with oligohydramniosis and megacystis due to lower urinary tract obstruction. Postnatal diagnosis was confirmed in both cases. Considering the dismal perinatal outcome, an accurate prenatal diagnosis is required for counseling the parents and preparing for postnatal care.

Spectrum of penoscrotal positional anomalies in children

Penoscrotal transposition, where malposition of penis occur in relation to scrotum. It is frequently associated with malformation of genitourinary, cardiovascular or skeletal system. As it is extremely rare no standard treatment protocol exist. We here represent a newborn baby with complete penoscrotal transposition, died 5 hours after birth due to complication of perinatal asphyxia.

Complete penoscrotal transposition

Complete transposition of the penis and scrotum, or prepenile scrotum, is an uncommon congenital malformation. Concomitant genitourinary abnormalities, often life-threatening in nature, are frequently seen, and major malformations involving other organ systems may also be present. We report a newborn in whom complete penoscrotal transposition was accompanied by urethral atresia and radial dysgenesis.

A complete penoscrotal transposition (CPST) is a very uncommon congenital maldevelopment that is always associated with other abnormal body variations (malformations). We report a rare case of a term neonate delivered with CPST, which had a flaccid penis and an intact scrotum with unilateral limb and digital deformity, imperforate anus, cardiac malformation a facial deformity. Neonate died two hours after delivery. The foetal abnormality was not detected through routine antenatal services received by the mother.

Complete penoscrotal transposition (CPST) with an intact scrotum is a rare anomaly in which the scrotum is located cephalic to the penis. It is the most severe degree of malformation of a spectrum of abnormalities in scrotal development. There are few cases reported in the literature, and there are few descriptions of the technique for correction and results. We describe a new case of CPST and its sequential correction.