Complete urorectal septal malformation with left hemimelia in a neonate: an uncommon association

Ramya, Gurujala Mahadeva; Abiramalatha, Thangaraj; Balakrishnan, Umamaheswari; Narayanan, Saishalini Chinnathambi

doi:10.1136/bcr-2020-241423

Cited by 1 publication

(8 citation statements)

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“…In our review, we found 18 cases have been reported to have vascular anomalies, 28% of reports (Table 4 ), and eight of them had a single umbilical artery [ 8 , 14 , 29 , 38 , 39 , 49 , 56 ]. Dykes et al reported in 1993 a case series study of subjects having urogenital malformations with distorted distal aortas or iliac arteries, one of whom had bladder agenesis with the aberrant aorta low in the pelvis giving rise to an aberrant left iliac artery and a left internal iliac branch absent [ 12 ].…”

Section: Reviewmentioning

confidence: 99%

“…Those four latter cases represent the urogenital sinus type. Two cases reported the common cloaca as the site of insertion [ 29 , 56 ]. In one case, the ureters were blind-ended [ 8 ].…”

Section: Reviewmentioning

confidence: 99%

“…Subjects could be divided into two groups depending on the timing of the presentation: (1) early presentation as neonates due to one or more of the following: azotemia or oligohydramnios and its complications [ 6 , 9 , 16 , 19 , 22 , 24 - 26 , 28 , 29 , 31 , 39 , 45 - 47 , 54 - 56 ] or ambiguous genitalia [ 6 , 8 , 9 , 14 , 17 , 20 , 21 , 25 , 28 , 29 , 36 , 38 , 39 , 41 , 49 , 51 , 54 ] and occasionally part of a complex syndrome; in those cases, absent bladder was an incidental finding, or less commonly, subjects who were noted to have imperforated anus or inability to pass stool [ 9 , 20 , 28 , 36 , 48 , 51 ]. The prenatal presentation was due to oligohydramnios, and the definitive diagnosis was after birth.…”

Section: Reviewmentioning

confidence: 99%

“…Bladder agenesis is associated with a wide array of vertebral deformities and some limb deformities. Reported vertebral, sacral, and rib malformations include, but are not limited to, butterfly vertebrae [ 44 ], block vertebrae [ 20 , 44 ], or hemivertebrae [ 45 ], asymmetric vertebral bodies, six lumbar vertebrae [ 25 ], additional rib [ 14 , 15 , 20 , 22 ], vertebral hemispondylosis [ 23 ], scoliosis [ 1 , 3 , 8 , 15 , 34 ], hemihypertrophy [ 15 ], and sacral hypoplasia or dysplasia [ 23 , 25 , 53 ], spinal bifida [ 1 , 15 , 16 ], sacral dimple [ 14 ], fused ischial bones [ 25 ], and sacral agenesis [ 56 ].…”

Section: Reviewmentioning

confidence: 99%

“…Lower limb deformities: Equinovarus deformities (clubfeet) [ 1 , 29 ], left foot agenesis, remnant extremity [ 20 ], rocker bottom feet [ 29 ], DDH [ 29 , 34 , 35 , 52 ]; one with gluteal and thigh muscle atrophy [ 35 ] and another with genu valgum [ 29 ], bilateral inguinal hernia [ 26 ], and absent fibula (hemimelia) [ 56 ].…”

Section: Reviewmentioning

confidence: 99%

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Bladder Agenesis: A Systematic Review

Yahya

2023

Cureus

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Bladder agenesis is a rare congenital deformity characterized by the absence of the bladder. It is primarily observed in postmortem dissections of stillbirths rather than live births. The condition is often associated with other congenital anomalies, leading to the hypothesis that most affected fetuses do not survive to term. However, the exact cause and specific associated anomalies remain unclear and poorly described in the literature. The limited mention of bladder agenesis in textbooks and literature underscores the importance of creating a comprehensive source for future research in this field. Therefore, our objective is to collect and analyze data on bladder agenesis, focusing on associated anomalies and potential causes, to enhance our understanding of the condition. We conducted a thorough review of reports collected from three databases, Google Scholar, PubMed, and Science Direct, last searched on July 30, 2023, starting with 327 reports. Excluding duplicates and records written in languages other than English, veterinary studies, irrelevant reports, or stillbirths. Inclusion criteria were the following: cases must have proven bladder agenesis, not hypoplasia, and must have most of the information, including the age of diagnosis, presenting symptoms, gender, associated anomalies, and management or outcome of the patient. A quality assessment was conducted according to the Joanna Briggs Institute checklist for case reports. A total of 65 case reports from 56 articles were included in the review. Through our manual analysis, we documented a wild array of malformations associated with bladder agenesis. Among the reports reviewed, 93% exhibited urinary system malformations beside bladder agenesis, 77% were found to have reproductive malformations, 44% had gastrointestinal anomalies, 38% showed musculoskeletal malformations, 28% had cardiac malformations, and another 28% had vascular anomalies. The overall mortality rate was 38%, with a higher rate of 74% for males compared to 20% for females. By collating and analyzing those case reports, we aim to contribute to a better understanding of bladder agenesis and its associated anomalies, facilitating further investigations and advancements in the field.

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Section: Reviewmentioning

confidence: 99%

“…Those four latter cases represent the urogenital sinus type. Two cases reported the common cloaca as the site of insertion [ 29 , 56 ]. In one case, the ureters were blind-ended [ 8 ].…”

Section: Reviewmentioning

confidence: 99%