Anorectal anomalies associated with or as part of other anomalies (original) (raw)
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American Journal of Medical Genetics, 2000
Anal atresia (AA) is observed per se or as part of different Mendelian or chromosomal syndromes, and as part of the VACTERL primary developmental field, CHARGE association, cloacal extrophy, in a mitochondrial cytopathy, and other multiple congenital anomaly patterns. There are only a few studies on the defects associated with AA, and in all of them it was observed that genitourinary defects are most frequent in infants with AA. Here we present the analysis of 28,410 malformed infants to study the frequency of 11 selected congenital defects in infants with AA in relation to their frequency in infants with multiple congenital anomaly patterns without AA. We conclude that the association of AA + spine defects + renal/urinary tract defects + genital defects constitutes a group of defects that tends to be present together in the same child because they are pathogenetically related, and since they are of blastogenetic origin they constitute a primary polytopic developmental field defect. Am. J. Med. Genet. 95:169-173, 2000.
ANORECTAL ANOMALY: Its embryological and genetic basis
International Journal of Research in Health Sciences, 2014
Anorectal anamolies consist of a wide spectrum of diseases, which can affect both boys and girls, and involve the distal anus and rectum along with the urinary and genital tracts. They are of three types: high, intermediate and low. The high type anorectal malformations are usually associated with congenital anomaly of other systems or organs .The present case is a normal male child born through spontaneous vaginal delivery but presented with failure to pass meconium and had no anal opening. The brief history taken & examinations performed helped in making the diagnosis of anorectal malformation, most probably imperforate anus. The present anamoly is discussed here with its anatomical & developmental basis.
Are abdominal wall defects and external genitalia anomalies randomly expressed in some families?
Congenital anomalies, 2011
Familial cases of isolated abdominal wall defects with variable expressivity in more than one generation have rarely been observed. We report four affected individuals within a small three-generation family with either variable non-syndromic abdominal wall defects or external genital anomalies. We discuss the possible transmission of non-syndromic abdominal wall defects. It could be hypothesized that similar developmental defects may result in anomalies like hypospadias in males or developmental anomalies of the labia minora or labia majora in females.
Objectives: To analyze our experience in the treatment of low / intermediate anorectal anomalies with staged anal transposition and assess prevalence of various malformations and associated defects in female patients. Study Design: Dissertation based retrospective study Place & Duration of Study: This study was conducted at the Department of Pediatric Surgery The Childern`s hospital & the institute of child health Lahore Pakistan and Mayo Hospital / KEMC Lahore , Pakistan from January 2012 to August 2015. Patients & Methods: During a period of two years and eight months from January 2016 to August 2015 , 304 patients with various anorectal malformations were admitted to our department. These included 218 males and 86 female patients.40 female patients presented in neonatal age. Initial procedure performed for anovestibular/ rectovestibular fistula was cutback anoplasty or colostomy followed by anal transposition /PSARP at a later time. Patients with anovestibular and rectovestibular fistulae were divided at random into two groups and first group (A) underwent three staged procedure and second group(B) underwent two staged procedure .In this way management was completed in 30 patients. Results: Male to female ratio observed in present study was 2.5:1. Anovestibular fistula (54%) was found to be most common lesion in these patients followed by rectovaginal and rectovestibular fistula (9%).Imperforate anus without fistula was present in 10 patients. Associated anomalies were found to coexist in 26(33%) patients. Conclusion: Large majority of patients comprised of fistulous lesions in the patient population studied. Two staged Anal transposition is comparable (more advantageous) and cost effective than three staged procedure for management of these fistulous lesions. This kind of surgery should always be performed with a covering colostomy. Keywords: anovestibular/rectovestibular fistula, female imperforate anus, anal transposition, Treatment,
Journal of pediatric surgery, 2017
The anal position index (API) defines the normal anal position as the ratio of fourchette-anal distance to fourchette-coccyx distance for females and the scrotum-anal distance to scrotum-coccyx distance for males. In this study, measurement of the API in newborns and infants with anorectal malformations (ARM), using the center of the midline anal dimple (AD) to represent the center of the proposed neoanus, was performed to assess whether or not the AD was located in a significantly abnormal position as correlated with the normal anal position. The cases comprised 65 consecutive newborn and infants with ARM, divided into 2 age-based groups (Group A: 1st day to 1month; Group B: 1-12months), without sacral or significant perineal abnormalities. Controls included an equal number of age and gender matched patients admitted for other conditions. The characteristics of the AD ('well developed' or 'moderately developed') as well as those of the midline perineal raphé in male...
A female neonate with absent anal opening and dug perineum: Think high
Journal of Neonatal Surgery, 2020
Background: A female neonate with anorectal malformation (ARM) may have one, two, or three openings in the perineum. One opening represents cloaca while three openings usually suggest low ARM. Females with two openings in the perineum may be ARM without any fistula, rectovaginal fistula, or absent vagina. The association of ARM with multiple intestinal atresias and malrotation is rare. Case Presentation: We present here a case of a female neonate with two perineal openings, whose perineum was explored by a general surgeon without any radiological investigation and was later found to have a high ARM, multiple jejunal and ileal atresia with malrotation. Conclusion: ARM associated with small bowel atresia and malrotation are rarely described. Such cases require management in Pediatric surgery settings.
Increased heritability of certain types of anorectal malformations
Journal of Pediatric Surgery, 2007
Purpose: Various lines of evidence point to genetic causes for the diverse spectrum of anorectal malformations (ARMs); we therefore studied patterns of heritability in a large case series. Methods: We searched our ARM database for all patients having family members with congenital anomalies. This group was analyzed to determine the type of ARM and the specific anomalies in affected family members. Results: Thirty-nine of 1606 patients (2.4%) had a family member with a congenital anomaly. The associated non-ARM anomalies included sacral masses and gynecologic, hematologic, esophageal, duodenal, renal, and spinal anomalies. Of these, 24 patients (1.4%) had 1 or more family members with an ARM. Among females with a positive family history, 73% of patients had either a vestibular or perineal fistula, compared with only 36% in patients without a family history ( P = .0004). Among males, 35% had perineal fistulas compared with only 10% of those without affected family members ( P = .0051). Conclusions: A positive family history in 1.4% is supportive of a strong genetic component to ARM. The risk of having an affected family member is significantly increased in the presence of a vestibular or perineal fistula. These new data allow for more informed counseling of families with an ARM and support the need for further genetic studies. D (R.A. Falcone).
Journal of Pediatric Surgery, 2012
We evaluated the incidence of congenital anomalies associated with anorectal malformations (ARMs) in relation to the anatomic type of ARM as defined by the Krickenbeck classification. Methods: We reviewed 99 children with ARM in our institution from 2002 to 2011. Data were collected on patient demographics, type of ARM, and associated congenital anomalies, which were categorized according to organ systems. Statistical analysis was performed for comparison between groups using 'perineal fistula' as the base group. Results: There were 62 (63%) male patients. The majority had perineal fistulas (35, 35%). Seventyseven (78%) had at least one associated malformation. The most frequent malformations seen were genitourinary (28, 28%) and spinal anomalies (26, 26%). Those with rectovesical fistula had the highest proportion of genitourinary malformations (Odds Ratio [OR], 41.3; 95% confidence interval [CI], 4.7-363.4). Those with cloaca (OR, 49.5; 95% CI, 3.4-718.9) and those with rectovestibular fistula (OR, 12.4; 95% CI, 2.3-65.6) were most likely to have major spinal abnormalities, with tethered cord seen in all groups. The rectovestibular group was also most likely to have other associated malformations (OR, 8.6; 95% CI, 2.2-32.8). Conclusion: More than 75% of children with anorectal malformation have other associated malformations. Genitourinary anomalies are the most common. Major spinal anomalies are seen in all groups, affecting nearly half of those with rectovestibular fistula and those without fistula. The incidence of associated malformations in the rectovestibular group is higher than described in the literature. Thorough systematic evaluation of all infants with ARM should be done regardless of type of ARM.