SEARCH · PubMed Health

Results for “ANUS, IMPERFORATE”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 847 records · Page 47Linked to original sources

PubMed2006

Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature.

BACKGROUND: Unbalanced chromosomal translocations may present with a variety of clinical and laboratory findings and provide insight into the functions of genes on the involved chromosomal segments. CASE PRESENTATION: A 9 year-old boy presented to our clinic with Factor VII deficiency, microcephaly, a seizure disorder, multiple midline abnormalities (agenesis of the corpus callosum, imperforate anus, bilateral optic nerve hypoplasia), developmental delay, hypopigmented macules, short 5th fingers, and sleep apnea due to enlarged tonsils. Cytogenetic and fluorescence in situ hybridization analyses revealed an unbalanced translocation involving the segment distal to 16p13 replacing the segment distal to 13q33 [46, XY, der(13)t(13;16)(q33;p13.3)]. Specific BAC-probes were used to confirm the extent of the 13q deletion. CONCLUSION: This unique unbalanced chromosomal translocation may provide insights into genes important in midline development and underscores the previously-reported phenotype of Factor VII deficiency in 13q deletions.

Abnormalities, Multiple↗

PubMed2000

Hedgehog signals regulate multiple aspects of gastrointestinal development.

The gastrointestinal tract develops from the embryonic gut, which is composed of an endodermally derived epithelium surrounded by cells of mesodermal origin. Cell signaling between these two tissue layers appears to play a critical role in coordinating patterning and organogenesis of the gut and its derivatives. We have assessed the function of Sonic hedgehog and Indian hedgehog genes, which encode members of the Hedgehog family of cell signals. Both are expressed in gut endoderm, whereas target genes are expressed in discrete layers in the mesenchyme. It was unclear whether functional redundancy between the two genes would preclude a genetic analysis of the roles of Hedgehog signaling in the mouse gut. We show here that the mouse gut has both common and separate requirements for Sonic hedgehog and Indian hedgehog. Both Sonic hedgehog and Indian hedgehog mutant mice show reduced smooth muscle, gut malrotation and annular pancreas. Sonic hedgehog mutants display intestinal transformation of the stomach, duodenal stenosis (obstruction), abnormal innervation of the gut and imperforate anus. Indian hedgehog mutants show reduced epithelial stem cell proliferation and differentiation, together with features typical of Hirschsprung's disease (aganglionic colon). These results show that Hedgehog signals are essential for organogenesis of the mammalian gastrointestinal tract and suggest that mutations in members of this signaling pathway may be involved in human gastrointestinal malformations.

Animals↗

PubMed2004

Communicating with parents with full disclosure: a case of cloacal extrophy with genital ambiguity.

UNLABELLED: Full disclosure and complete involvement of parents in decisions concerning assignment of sex and genital surgery must be part of medical care for children presenting with findings consistent with disorders of intersex. Intersex most commonly involves disorders of steroidogenesis or gonadal function, but may include multiple cloacal anomalies, such as presented here. OBJECTIVE: To describe full disclosure of medical findings, by a multi-disciplinary medical team, as they became available over a period of weeks, in an infant originally assigned male, but eventually assigned female. PATIENT: An infant born at 24 weeks of gestation, after prenatal ultrasound showing distended bladder, ascites, and bilateral hydroureters, found to have an imperforate anus and a tubular structure appearing as a thin penis, without palpable corpora. DISCUSSION: Events concerning this case are discussed in relation to full disclosure of medical information to parents, guidelines for management of intersex, and the diagnosis (cloacal anomaly, cloacal extrophy, ano-rectal anomalies or uro-rectal septum malformation sequence). CONCLUSIONS: Full disclosure with involvement of parents with medical decisions is not only mandated currently, but also can be an effective approach in intersex care.

Cloaca↗

PubMed2000

Presentation of low anorectal malformations beyond the neonatal period.

OBJECTIVE: Anorectal malformations are usually diagnosed at birth, but some patients have presented to this institution beyond the early newborn period without recognition of their anorectal malformations. To quantify the extent of this problem, we undertook a review of all patients presenting to this hospital with anorectal malformations. METHODS: We reviewed all new cases of anorectal malformations treated at British Columbia's Children's Hospital during the past 11 years. We looked specifically at the time of diagnosis, patient age, sex and mode of presentation, the type of anorectal malformations, and any associated anomalies. RESULTS: One hundred twenty new cases of anorectal malformations were seen here, of whom, 15 patients (9 girls and 6 boys) presented beyond the early newborn period. Of these, 1 male infant was diagnosed at 2 weeks of age and another girl at 14 years of age. The remaining 13 presented between 3 and 11 months of age because of increasing constipation, usually associated with the introduction of solid foods. All had low anorectal malformations. Nine patients had at least 1 other feature of the VACTERL complex. CONCLUSIONS: Most anorectal malformations are identified at birth, but a significant number of the milder lesions may not be recognized until later. Therefore, this condition must be considered in older infants and children presenting with constipation, particularly if they also have cardiac or genitourinary anomalies. constipation, imperforate anus, VACTERL.

Adolescent↗

PubMed1978

Ectopic vas deferens: a report of two cases and review of the literature.

Two new cases of ectopia of the urethral end of the vas are described, and six cases reported since 1949 are reviewed. Most cases had associated urinary tract abnormalities, often anomalies of renal position, and imperforate anus was the most frequent gastrointestinal anomaly. The most productive mode of radiologic evaluation was voiding cystourethrography. The two types of insertion and the associated urinary and gastrointestinal anomalies are analyzed on the basis of embryologic development.

Abnormalities, Multiple↗

PubMed1991

Urethral abnormalities in male neonates with VATER association.

In the past 3 years, eight of 20 male neonates with stigmata of the VATER association were found to have significant urethral abnormalities. Three had megalourethra, two had duplication of the urethra, and one each had an anterior urethral valve, congenital stricture, and hypospadias. In only five of eight was the extent of the abnormality clinically apparent. All three infants with megalourethra and imperforate anus died because of the coexistence of other severe congenital anomalies. Prior literature has described but not stressed the increased prevalence of urethral abnormalities in children with the VATER association. Because of the high prevalence (eight of 20) of significant urethral anomalies, we perform voiding cystourethrography on all males with the stigmata of the VATER association, even in the absence of clinical symptoms.

Abnormalities, Multiple↗

PubMed1993

Twin pregnancies in the second trimester in women in an alpha-fetoprotein screening program: sonographic evaluation and outcome.

OBJECTIVE: We correlated sonographic findings with fetal outcomes in women with unsuspected twin pregnancies who had sonography in the second trimester as part of a screening program for maternal serum alpha-fetoprotein (MSAFP) level and history of neural tube defect. MATERIALS AND METHODS: The study group consisted of 97 women with twin pregnancies who participated in a screening program for MSAFP level and history of neural tube defect. Seventy-three had normal MSAFP levels, 21 had elevated MSAFP levels, and two had low MSAFP levels. One patient had a family history of anencephaly. All 97 patients had sonography during their second trimester of pregnancy. Sonographic findings were reviewed retrospectively for information on gestational age, fetal anomalies, sex of the fetus, location of the placenta, presence and thickness of a dividing membrane, and interpretation of amnionicity and chorionicity. Information on fetal outcome included gestational age at delivery, survival, birth weight, sex, congenital anomalies, obstetric complications, amnionicity, chorionicity, and placental abnormalities. RESULTS: Amnionicity and chorionicity were correctly detected on sonograms in 44 (90%) of 49 diamniotic-dichorionic gestations, 23 (72%) of 32 diamniotic-monochorionic gestations, and two (50%) of four monoamniotic-monochorionic gestations. Fetal anomalies were present at delivery in five neonates and had been correctly detected at sonography in one (hemivertebra); one fetus with duodenal atresia had abnormal sonographic findings in the third trimester. Missed anomalies included absent forearm, cleft lip and palate, and imperforate anus. Sex of the fetuses was correctly predicted on the basis of sonographic findings in 40 of 43 pairs. Nine twin pairs had possible twin-twin transfusion syndrome suspected sonographically on the basis of abnormal fluid volumes, discrepant growth measurements, and abnormal findings on Doppler studies. Outcomes included two confirmed cases of the syndrome (two survivors, two deaths) and three probable cases (six deaths); four pregnancies resulted in eight survivors who were delivered after 34.4 weeks' gestation and had birth weights in the 25th percentile or higher. Survival rates for diamniotic-dichorionic, diamniotic-monochorionic, and monoamniotic-monochorionic gestations were 90%, 91%, and 50%, respectively. Fetuses in women with MSAFP levels greater than 4.5 multiples of the median and with monochorionic placentation had lower survival rates than fetuses in women with normal MSAFP levels and monochorionic placentation (67% vs 96%). Half the fetuses delivered after 20 weeks' gestation had birth-weight discordance of less than 10%. Premature deliveries occurred in 56% of pregnancies. CONCLUSION: The results suggest that (1) sonography is useful in predicting placentation, (2) placentation may be helpful in predicting fetal outcome, (3) increased MSAFP levels correlate with increased perinatal mortality in diamniotic-monochorionic pregnancies, and (4) caution should be taken in diagnosing and determining prognosis for suspected twin-twin transfusion syndrome in the second trimester.

Amnion↗

PubMed1997

Echogenic dilated bowel loops before 21 weeks' gestation: a new entity.

OBJECTIVE: The purpose of this study was to determine the outcome at birth for fetuses in which echogenic dilated bowel loops (EDBL) are detected before 21 weeks of gestation. MATERIALS AND METHODS: A retrospective study was undertaken of 45 patients with EDBL. Sonographic criteria included dilated bowel with an echogenic wall. EDBL was divided into two categories: the isolated and the complex (associated with other abnormalities). When the EDBL affected only one quadrant of the fetal abdomen, it was referred to as the local form, and when it was observed in more than one quadrant, it was termed the diffuse form. RESULTS: Intestinal dilatation of 2-8 mm was revealed on sonography in 21 fetuses with the isolated form of EDBL. Follow-up sonography showed resolution of EDBL in 20 cases. The outcome at birth was normal in 19 (90%) cases. The 20th fetus was born with jejunal atresia, and the remaining fetus died after cordocentesis. Twenty-four fetuses with the complex form of EDBL also had intestinal dilatation of 2-8 mm shown on sonography. Nine (38%) of these fetuses were born alive: six had gastroschisis; two had meconium peritonitis; and one had vertebral defects, imperforate anus, tracheoesophageal fistula, and radial and renal dysplasia (VATER). In these cases, resolution of EDBL was noticed at sonographic follow-up. Fourteen (58%) of the 24 fetuses were aborted. The remaining fetus died after amniocentesis. The incidence of normalcy is comparable in both local and diffuse dilatation. Amniocentesis was performed in 15 cases. Disaccharidase activity was measured in 13 patients. Low disaccharidase activity was detected in 10 (77%) of 13 cases. We saw cystic fibrosis in none of the 45 fetuses. Infection was detected before and at birth in five (11%) cases. CONCLUSION: EDBL is a new entity that is most likely related to temporary obstruction. A fetus with the isolated form has a good prognosis, whereas a fetus with the complex form has an outcome directly related to the severity of associated abnormalities.

Adult↗

PubMedDate not supplied

From small pelvic outlet syndrome to sirenomelia.

We report 5 newborns with a contracted lesser pelvis, imperforate anus (severely stenotic and ectopic anus in 1 case), absent or rudimentary urinary tract, and defective or absent external genitalia, vagina, and uterus but normal gonads. The first 2 patients had small pelvic outlet syndrome (SPOS). The findings in the third patient, a possible transition to sirenomelia, were more severe and included malposition of the penis to the posterior sacral area. The fourth and fifth patients had sirenomelia. The remarkable similarity of many abnormalities observed in these cases and related material in the literature suggests that SPOS and sirenomelia may be part of the same malformation complex (SPOS/sirenomelia complex).

Abnormalities, Multiple↗

PubMedDate not supplied

Malformation of the lumbosacral spinal cord in a case of sacral agenesis.

Agenesis of the sacrum is a rare anomaly that is associated with numerous visceral abnormalities, spinal cord malformation, and lower limb defects. A fatal case of sacral and lower lumbar agenesis in a 3-day-old female infant born at 38 weeks of gestation is reported. The extraneural malformations comprised an imperforate anus, a rectovaginal fistula, and musculoskeletal abnormalities, including several thoracocervical hemivertebrae and aplasia of the sacrum and the fourth and fifth lumbar vertebrae. The cervical and high thoracic spinal cord segments were normal. Disruption of secondary neurulation, possibly due to notochord dysfunction, was suggested by malformation of the ventral half of the lower thoracic spinal cord with relative preservation of the dorsal horns and, more caudally, by loss of all normal histological landmarks, including the central canal. Neither skeletal muscle nor myoblasts were found in muscle compartments that would normally have received motor innervation from the levels of the spinal cord from which anterior horn cells were absent, indicating parallel, segmental failure of myotomal differentiation in the caudal eminence.

Abnormalities, Multiple↗

PubMedDate not supplied

Spondylocostal dysostosis with perinatal death and meningomyelocele.

A preterm black girl was born at 35 weeks of gestation to a healthy nonconsanguineous couple. She had a very short trunk with disproportionately long extremities, mild prognathism, low-set ears, thoracolumbar meningomyelocele, and imperforate anus. She died 45 min after birth. Roentgenograms revealed hemivertebrae, block vertebrae, severe thoracic lordosis, absent sacrum, posterior fusion of some ribs with greater distance among them in the anterior thorax, and relatively long extremities. Internal examination showed an intact meningomyelocele extending from the first thoracic vertebra to the lumbosacral region, containing 150 mL of clear fluid. The lungs were severely hypoplastic. Spondylocostal dysostosis encompasses a spectrum of vertebral abnormalities ranging from spina bifida occulta to large meningomyelocele and from mild to severe thoracic deformities that produce pulmonary hypoplasia and respiratory insufficiency. Our case is one of the most severe ever described.

Abnormalities, Multiple↗

PubMed1999

Atypical pulmonary artery sling with diffuse-type pulmonary arteriovenous fistula.

The case of a cyanotic infant with a rare combination of atypical pulmonary artery sling, imperforate anus, absence of the left kidney, interruption of the inferior vena cava, left side hemihypertrophy and diffuse-type pulmonary arteriovenous fistula is described. The clinical features were confusing, because of compounding abnormalities involving the respiratory tract and pulmonary circulation. The diagnostic approach to the etiology of cyanosis is discussed and the embryonic origin of pulmonary artery sling is reviewed.

Arteriovenous Fistula↗

PubMed1995

Long-term follow-up of gracilis muscle transposition in children.

Sixteen children of uncontrollable fecal incontinence have been treated with Pickrell's gracilis muscle transposition since 1983: 12 had an imperforate anuses with multiple corrective operative procedures and 4 had traumatic destructions of anal sphincters. We report a series of 11 cases whom we followed-up over a period of 0.8 to 10.5 years (mean; 5.6 years). Seven patients were evaluated by anorectal manometry. All patients except one who had left hemipelvectomy and permanent colostomy showed nearly normal continence during the follow-up period. There was no evidence of fibrosis in the transposed muscles and the tensions of the transposed muscles were well maintained. The voluntary contractions of the transposed muscles were well maintained and efficient in all cases. The general manometric parameters did not correlate well with the functional results; however, there was a strong correlation in the S/R ratio (maximum squeeze pressure/resting pressure) with the functional results. We believe that the good functional outcome of this procedure need not only the meticulous surgical technique but also the personal motivation and the compliance with physiotherapy. In conclusion, although the gracilis muscle transposition never results in normal continence, acceptable continence can be achieved in the selected patients.

Adolescent↗

PubMed2003

Eagle-Barrett syndrome: occurrence and outcomes.

OBJECTIVE: To examine the occurence and outcomes of African babies born with features of Eagle-Barret syndrome at a tertiary health centre. DESIGN: Case series. SETTING: University Teaching Hospital, Yaounde, Cameroon. SUBJECTS: Patients were identified through a retrospective review of obstetric records of mothers admitted at the centre within the period 1984 to 1996 inclusive. A total of eleven cases were identified over a period of thirteen years. RESULTS: The most prominent associated defects consisted of clubfoot, pulmonary hypoplasia, Potter's facies, imperforate anus and arthrogryposis. None of our patients survived the perinatal period. CONCLUSION: Our study indicates the need for the establishment of a prenatal and cytogenetic infrastructure in Cameroon to enhance early detection of congenital malformation and chromosomal aberrations. In the meantime, early detection of foetuses with Eagle-Barret syndrome using ultrasound could facilitate timely institutions of antenatal management options and lead to favourable birth outcomes of affected babies.

Abnormalities, Multiple↗

PubMed2006

Congenital malformations in the North-Eastern Democratic Republic of Congo during Civil War.

OBJECTIVE: To report on changes in the incidence of congenital malformations in a context of an ongoing civil conflict. DESIGN: Retrospective study. SETTING: Centre Médical Evangélique (CME) of Nyankunde, a 250 bed referral hospital, in the North Eastern Democratic Republic of Congo (DRC) during the period 1993 to 2001. SUBJECTS: A total of 8824 babies were delivered alive at our maternity; and 36 of them (0.41%) were born with a clinically diagnosed congenital malformations. RESULTS: The breakdown of the observed malformations was as follow: clubbed foot nine, congenital hydrocephalus eight, spina bifida six, cleft lip four, encephalocele two, syndactyly two, imperforated anus two, Anencephaly one, lymphangioma one, bladder exstrophy one. There was a significant increase in the annual incidence of congenital malformations (p<0.001). CONCLUSION: Ongoing civil conflicts or wars ultimately have a negative impact on the incidence of congenital malformations. This is an indirect and multifactorial consequence. We conclude that ongoing civil conflict is a contributing factor to the increasing incidence of congenital malformations seen in the North-Eastern DRC.

Congenital Abnormalities↗

PubMed1994

Significance of orbital measurements in the fetus.

Orbital imaging is not performed routinely during obstetrical sonography, but the discovery of abnormal orbital diameters provides evidence of fetal dysgenesis. This study was designed to establish the validity of a previously developed orbital nomogram for a high-risk population and to determine whether proved cases of hypotelorism and hypertelorism fell outside the normal ranges. Inner and outer orbital measurements of 422 fetuses were obtained prospectively during routine obstetrical sonography in a high-risk patient population. Comparison of these measurements to the previously established nomogram demonstrated that the nomogram is still accurate with current equipment and in a population at high risk for anomalies. In addition, sonograms and autopsy and clinical data from six cases of hypotelorism, two of cyclopia, and three of hypertelorism were reviewed retrospectively. Both inner and outer orbital measurements fell clearly below two standard deviations of the mean in all six cases of hypotelorism. The three cases of hypertelorism had inner orbital measurements above the 95th percentile and outer orbital distances within normal limits but near the 95th percentile. All cases with abnormal orbital distances had associated intra- or extracranial abnormalities, including holoprosencephaly, encephalocele, cleft palate, cardiac anomalies, imperforate anus, diaphragmatic hernia, and digit anomalies.

Anthropometry↗

PubMed1998

Dilation of the ventriculus terminalis: sonographic findings.

A newborn term male infant was found to have the stigmata of VACTERL syndrome, including cervical and thoracic hemivertebra, partial sacral agenesis, 13 pairs of ribs, high imperforate anus with rectovesical fistula, and tracheoesophageal fistula with proximal esophageal atresia. No open spinal dysraphism or skin dimpling was seen. Ultrasonography of the spinal cord was performed to screen for occult anomalies. The examination revealed a lipoma of the filum terminalis and a low-lying conus medullaris at the L3-L4 level with a large central cystic structure in the terminal cord, which was continuous with the central canal (Fig. 1). This was thought to most likely represent a dilated ventriculus terminalis, and the diagnosis was confirmed on a subsequent MR image (Fig. 2). Fluid in the cyst followed cerebrospinal fluid signal in all sequences. We observed no abnormal signal in the adjacent parenchyma or enhancement associated with the cystic mass. A cranial ultrasonogram did not reveal any intracranial anomalies. The patient demonstrated no neurologic deficits in the lower extremities. Bowel and urinary continence was not assessable in this infant.

Abnormalities, Multiple↗

PubMed2004

Prenatal sonographic diagnosis of hemivertebra.

OBJECTIVE: To describe our experience in prenatal diagnosis of hemivertebra. METHODS: This is a case series of patients referred to our tertiary medical center over a 3-year period. All fetuses were scanned by high-resolution real-time scanners. The apparent vertebral anomaly was assessed in a real-time manner by a joint team of obstetricians, sonographers, and pediatric orthopedic surgeons. A complete anomaly survey of other fetal organs was performed on each fetus. All patients were given proper counseling by the same joint team. All patients had detailed obstetric and neonatal follow-up. Prenatal sonograms, neonatal medical records, and clinical courses were evaluated retrospectively. RESULTS: During the 3 years, 6 cases of hemivertebra were identified in our department. Gestational age at diagnosis was 14 to 23 weeks. Two patients had conception by assisted reproductive technology. Associated anomalies included VATER syndrome (vertebral defects, imperforate anus, tracheoesophageal fistula, and radial and renal dysplasia), gastroschisis, and pyelectasis. Outcomes in fetuses without major associated anomalies were fair. CONCLUSIONS: Diagnosis of isolated hemivertebra might be associated with a favorable outcome. The 3 key factors in achieving an optimal spine at maturity, early diagnosis, anticipation, and prevention of deterioration, might be enhanced by our joint multidisciplinary approach to the diagnosis of skeletal anomalies.

Abnormalities, Multiple↗