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PubMed1999

An unusual case of the complete Currarino triad: case report, discussion of the literature and the embryogenic implications.

OBJECTIVE AND IMPORTANCE: We present and illustrate an unusual case of the complete familial Currarino triad (an association between a bony sacral defect, a presacral mass, and an anorectal malformation) in which the teratoma arose from the conus medullaris and contained mature neurons, glia, and branching ependymal canals that were in communication with a terminal syrinx. The embryogenic implications are discussed. CLINICAL PRESENTATION: The patient was a term neonate when discovered to have imperforate anus. Further workup revealed lumbosacral dysraphism with a presacral mass, a rectovaginal fistula, and a single pelvic kidney. The family pedigree revealed a familial transmission pattern; the patient had a second cousin with anal atresia and a first cousin with similar sacral anomalies. The motor level was L4 with trace L5, and there was absent sensation in the sacral dermatomes. INTERVENTION: A diverting colostomy was performed on Day 14, and the infant returned at 3 months of age to undergo near-total resection through the previous abdominal approach. Only a subtotal resection was possible because the mass arose from the low-lying conus and was firmly adherent to the sacral nerve roots and iliac vessel. Follow-up magnetic resonance imaging performed 18 months after surgery revealed that the residual tumor had not progressed. CONCLUSION: Complete Currarino triad is rare and is familial in half of the cases. The special features of the tumor in our case were the presence of mature neurons with ependymal canals and its origin from the conus. The possible embryogenesis may provide evidence that the caudal notochord is important for organized secondary neurulation.

Abnormalities, Multiple↗

PubMed2004

Trisomy 16 in a mid-trimester IVF foetus with multiple abnormalities.

An 18 week foetus with multiple system abnormalities was found to have full trisomy 16. This appears to be only the third reported case surviving into mid-gestation; typically, this common aneuploidy dies post-implantation. Similarities exist in the abnormalities found in the three cases suggesting that there is a 'surviving' trisomy 16 phenotype. It is characterised by: absent hemidiaphragm, pulmonary hypoplasia/aplasia, major cardiac defect, small chest, vertebral and rib defects, cystic kidneys, absent gall bladder, multiple spleens and imperforate anus, together with cleft palate, nuchal webbing/cystic hygroma, microcephaly, marked dysmorphic facial features and dorsiflexed great toe.

Abnormalities, Multiple↗

PubMed1977

A chromosome No. 2 abnormality in a child with a few congenital defects.

An abnormal chromosome No2 was found in the case of a child with an imperforate anus, a recto-vaginal fistula, unilateral atresia of the inner canal ,and deformity of the external ear. G-banding studies revealed an insertion of a segment of the short arm into the long arm in one of the chromosomes No. 2 of the proband, the apparent result of a de novo phenomenon of chromosome rearrangement.

Abnormalities, Multiple↗

PubMed1978

Johanson-Blizzard syndrome in a large inbred kindred with three involved members.

An infant with aplastic alae nasi, imperforate anus, focal aplasia cutis over the fontanels, microcephaly, and mental retardation is presented as an example of the Johanson-Blizzard syndrome. The infant failed to thrive and had evidence of malabsorption. He died at 4 months of age. The occurrence of extensive consanguinity in his family and the occurrence of two other members of the kindred with a similar syndrome indicate that this disorder is transmitted by an autosomal recessive gene.

Abnormalities, Multiple↗

PubMed1981

Partial trisomy 6q, due to balanced maternal translocation (6;22) (q21; p13) or (q21; pter).

We report a stillborn infant with partial trisomy 6q who had several major congenital malformations not previously associated with the chromosomal aberration. These included occipital encephalocele, ambiguous genitalia with imperforate anus, omphalocele and unilateral hydronephrosis. The infant's karyotype was 46,XY,-22,der(22),t(6;22)(q21; p13) or (q21;pter)mat. The mother and maternal grandmother are balanced translocation carriers.

Abnormalities, Multiple↗

PubMed1988

A new family with the Townes-Brocks syndrome.

We describe a new family with the Townes-Brocks syndrome, a dominantly inherited syndrome of anal, urorenal, ear and limb malformations. The proband shows the full spectrum of anomalies, including imperforate anus, prominent perineal raphe, rectoperineal fistula, triphalangeal thumb, preaxial hexadactyly, syndactyly, clinodactyly, preauricular protuberances, hypoplastic satyr ears, sensorineural hearing loss and urorenal anomalies. In contrast, the father shows only limb anomalies, sensorineural hearing loss and renal anomalies. Anorectal malformations, which are present in almost every patient with the Townes-Brocks syndrome, were absent in the father. This case report illustrates the intrafamilial variability of the Townes-Brocks syndrome. Consequently, careful examination of relatives of patients with this syndrome is necessary for the differential diagnosis with the sporadically inherited VA(C)TER(L) association.

Abnormalities, Multiple↗

PubMed1981

Anal atresia and the Klein-Waardenburg syndrome.

A 3-month-old male infant with type I Klein-Waardenburg syndrome with an imperforated anus and a perineal fistula is reported. The possible association of this gastrointestinal malformation with the KW syndrome is discussed.

Abnormalities, Multiple↗

PubMed1991

Pallister-Killian syndrome: additional manifestations of cleft palate and sacral appendage.

We report a case of Pallister-Killian syndrome in a 28 week gestation infant. In addition to the characteristic phenotype, this patient had a cleft palate, diaphragmatic hernia, sacral appendage, and imperforate anus. The lymphocyte karyotype showed 96% 46,XX/4% 47,XX+i (12p) and the fibroblast karyotype 47,XX,+marker (presumed i(12p]. Fibroblast cytogenetic studies should be considered in all cases of diaphragmatic hernia associated with other malformations.

Abnormalities, Multiple↗

PubMed1997

Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome.

Pallister-Hall syndrome is a human developmental disorder that is inherited in an autosomal dominant pattern. The phenotypic features of the syndrome include hypothalamic hamartoma, polydactyly, imperforate anus, laryngeal clefting, and other anomalies. Here we describe the clinical characterisation of a family with 22 affected members and the genetic mapping of the corresponding locus. Clinical, radiographic, and endoscopic evaluations showed that this disorder is a fully penetrant trait with variable expressivity and low morbidity. By analysing 60 subjects in two families using anonymous STRP markers, we have established linkage to 7p13 by two point analysis with D7S691 resulting in a lod score of 7.0 at theta = 0, near the GLI3 locus. Deletions and translocations in GLI3 are associated with the Greig cephalopolysyndactyly syndrome. Although Greig cephalopolysyndactyly syndrome has some phenotypic overlap with Pallister-Hall syndrome, these two disorders are clinically distinct. The colocalisation of loci for these distinct phenotypes led us to analyse GLI3 for mutations in patients with Pallister-Hall syndrome. We have previously shown GLI3 mutations in two other small, moderately affected families with Pallister-Hall syndrome. The linkage data reported here suggest that these larger, mildly affected families may also have mutations in GLI3.

Abnormalities, Multiple↗

PubMed1998

Extensive form of aplasia cutis congenita: a new syndrome?

Aplasia cutis congenita is a heterogeneous group of conditions usually involving the scalp as well as any other part of the body and is associated with a number of other congenital anomalies. We report on a newborn male with almost complete absence of skin and subcutaneous tissue in association with choanal atresia, syndactyly, imperforate anus, pulmonary hypoplasia, and other anomalies. To our knowledge, this condition, not only in the extent of the lesion but the associated anomalies, has not been reported previously.

Abnormalities, Multiple↗

PubMed1978

Anal agenesis with rectobulbar fistula.

Anal agenesis with a rectobulbar urethral fistula is an uncommon type of male imperforate anus. Six cases are presented with a review of the main features of the disorder, the possible embryologic origin, and the surgical management.

Anus, Imperforate↗

PubMed1997

Fecal incontinence in children: treatment with percutaneous cecostomy tube placement--a prospective study.

PURPOSE: To evaluate the technique used for and long-term results of percutaneous cecostomy tube placement for the treatment of fecal incontinence in children. MATERIALS AND METHODS: After an initial pilot study in 15 patients, 42 additional patients with fecal incontinence aged 2-20 (mean, 11.5) years and weighing 9.9-109.0 (mean, 39.2) kg underwent percutaneous cecostomy tube placement. Twenty-nine patients had spina bifida, nine had imperforate anus, three had cloacal anomalies, and one had Hirschsprung disease. Mean follow-up was 265 days (range, 8-503 days). RESULTS: Tube placement was successful in all patients. One patient developed local inflammation after accidental early retention-suture removal, which was treated with suture replacement and intravenous antibiotics. Another developed postprocedural ileus, which resolved. Late complications included constipation in one patient (treated with diet alteration), granulation tissue in seven patients (treated with silver nitrate cautery), and accidentally dislodged tubes in three patients (two successfully replaced at home and one replaced at the radiology suite). Vomiting related to the phosphate enema occurred in two patients. Resolution of soiling was achieved in all patients. CONCLUSION: Percutaneous cecostomy and antegrade enemas are very successful in achieving fecal continence and patient independence and acceptability, with minimal early and late complications.

Adolescent↗

PubMed1993

Tethered spinal cord in patients with anorectal and urogenital malformations.

We reviewed 26 patients with anorectal or urogenital malformations managed by the neurosurgical service at The Children's Hospital for tethered spinal cord as diagnosed by spinal MRI. There were 13 patients with cloacal exstrophy, 5 with the Vater association, 3 with imperforate anus, and 5 with other complex anomalies. Tethering spinal cord lesions included myelocystocele, lipomyelomeningocele, and filum lipoma. We review the clinical course, management, correlation of MRI and intraoperative findings, and outcome of the patients, as well as the embryology which underlies the association of these malformations.

Adolescent↗

PubMed1999

Townes-Brocks syndrome.

Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, preaxial polydactyly and triphalangeal thumbs, imperforate anus, and renal malformations. Most patients with Townes-Brocks syndrome have normal intelligence, although mental retardation has been noted in a few.

Abnormalities, Multiple↗

PubMedDate not supplied

Rectal duplication.

Duplications of the alimentary tract are of a great rarity, particularly so in the rectum. Because of its rarity, the difficulty of making a correct diagnosis and of selection of proper approach for treatment, this entity bears a special significance. The present case report deals with a female newborn who presented with imperforate anus and a rectovestibular fistula and a mass prolapsing at the introitus. Complete excision of the mass was carried out through the perineal approach and the child then underwent, a PSARP for the correction of the rectal anomaly. Histology confirmed the mass to be a rectal duplication.

Abnormalities, Multiple↗

PubMed2000

Newborn infant with inherited ring and de novo interstitial deletion on homologous chromosome 22s.

A 2-day-old infant was evaluated and suspected of having 22q11.2 deletion based on microcephaly, short and narrow palpebral fissures, a prominent nose with hypoplastic alae nasi, thin fingers, and a right aortic arch. He also had an imperforate anus, which is not in the del 22q11.2 syndrome. Karyotype analysis identified a ring 22, while fluorescence in situ hybridization (FISH) for the DiGeorge syndrome critical region identified a 22q deletion on the other homologue. The karyotype designation was 46,XY,r(22)(p13q13.3).ish del(22)(q11.2q11.2) (D22S75-). Both parents function in the mildly mentally retarded range. The father's karyotype was normal whereas the mother had the ring 22 that was inherited by her son. This is the first case reported for abnormalities on both 22 homologues.

Abnormalities, Multiple↗

PubMed2000

Neonatal intestinal obstruction.

We reviewed 36 cases of neonatal intestinal obstruction admitted to our surgical unit over a 10-year period, 1986-1996, for surgical intervention following the failure of conservative treatment. There were more males than females and the age range was 12 hours-26 days. Imperforate anus was the main cause of the obstruction (27.8%) followed by duodenal atresia (13.9%) and colonic atresia and meconium ileus (11.1% each). There were 8 deaths following surgery (22% mortality rate), the main causes being aspiration pneumonia, septicaemia and hypothermia.

Age Distribution↗

PubMedDate not supplied

Anorectoplasty in children in Papua New Guinea.

The posterior sagittal anorectoplasty (PSARP) procedure for the definitive repair of children with imperforate anus was described in 1982. Unfortunately, surgeons in Papua New Guinea (PNG) have until recently not had the opportunity of being trained in the technique. Through the Medical Officer, Nursing and Allied Health Sciences Training Project (MONAHP) and Pacific Islands Project (PIP) of the Royal Australasian College of Surgeons, 65 Papua New Guinean children with an anorectal anomaly have undergone a repair, in conjunction with training of the surgical staff and medical students. A new technique for the management of a prolapsed colostomy has been developed and a protocol for management of PSARP patients postoperatively has been formulated. Patients referred to the paediatric surgical visiting teams were diagnosed and treated according to the stage their management had reached. Patients with a low anomaly were treated by a cutback procedure, those with a colostomy and a high lesion were managed by a PSARP and those with failed previous surgery were managed with a redo anorectoplasty, often without a covering colostomy. Data were collected on the patients treated and, where possible, the patients were followed during subsequent visits. 65 patients with an anorectal anomaly were treated, of whom 6 were treated with a cutback and 43 had a primary repair of a major anomaly. 5 of these 43 involved an abdominoperineal procedure. 19 children had redo surgery, 3 of whom had a second operation by the senior author, due to failure of initial postoperative management; 1 of these was for a failure to carry out the postoperative dilatations and 2 were due to poorly controlled constipation in the early postoperative period. A protocol for the postoperative dilatations was developed using shaped candles. Major complications were uncommon, in particular infections were rare despite the relative lack of facilities. However, difficulties with outpatient follow-up resulted in problems that could have been avoided. A large number of anorectal anomalies have been successfully treated as part of the MONAHP and PIP projects with local surgeons learning the technique. A protocol for follow-up and a technique for the management of colostomy prolapse have been developed.

Anus, Imperforate↗