1/85. 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.- - - - - - - - - - ranking = 1keywords = atresia (Clic here for more details about this article) |
2/85. An uncommon association relating to cloacal maldevelopment: bladder agenesis, anorectal atresia, and absence of vulva, vagina, and uterus.The authors report on a newborn girl with complex urogenital and hindgut abnormalities. Urogenital anomalies consisted of absence of vulva and vagina, uterine and urethral atresias, bladder agenesis with ectopic ureteric opening, and bilateral pelvic ectopic kidneys. In addition, the baby had anorectal atresia without fistula as a hindgut anomaly. Herein, clinical evaluation and embryological review are made to explain the concomitant occurrence of these rare malformations.- - - - - - - - - - ranking = 6keywords = atresia (Clic here for more details about this article) |
3/85. Feminizing genital reconstruction, sigmoid vaginal replacement and anorectoplasty as a one-stage procedure for anorectal atresia associated with ambiguous genitalia.Anorectal atresia associated with male pseudohermaphroditism presents both diagnostic and surgical challenges. In the past, multiple operations were necessary for feminizing genitoplasty in gender-reassigned children with ambiguous genitalia. We combined the repair of an imperforate anus with a feminizing genitoplasty, including sigmoid vaginal replacement using the posterior sagittal approach in a 3-months-old infant. We conclude that a primary complete reconstruction is advantageous and should be performed in this condition.- - - - - - - - - - ranking = 5keywords = atresia (Clic here for more details about this article) |
4/85. Pyloric atresia associated with epidermolysis bullosa, malrotation, and high anorectal malformation with recto-urethral fistula: a report of successful management.Pyloric atresia (PA) is an uncommon anomaly that may be associated with many other congenital anomalies, the commonest of which is junctional epidermolysis bullosa (JEB). Most of the cases of PA associated with JEB (Herlitz syndrome) reported have been fatal. A case of PA associated with JEB, malrotation, and a high anorectal malformation with a rectourethral fistula, which was hitherto undescribed, was successfully managed at our institution.- - - - - - - - - - ranking = 5keywords = atresia (Clic here for more details about this article) |
5/85. Unilateral tibial aplasia, pre-axial polysyndactyly, vertebral anomalies and imperforate anus.Tibial hemimelia is a rare malformation that can be isolated or found with other skeletal abnormalities. We describe a fetus with unilateral tibial aplasia, ipsilateral pre-axial polysyndactyly and femoral hypoplasia, ventriculomegaly, anal atresia and rib and vertebral anomalies. We believe that this combination of malformations has not previously been described.- - - - - - - - - - ranking = 1keywords = atresia (Clic here for more details about this article) |
6/85. Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene.A 14-year-old African-American boy had chronic renal failure and Townes-Brocks syndrome (TBS). There were no affected family members. Features were imperforate anus, rectoperineal fistula, triphalangeal thumb, bifid thumb, rocker bottom feet, bilateral ear tags, satyr ear, sensorineural hearing loss, hypospadias, bilateral renal hypoplasia, and progressive chronic renal failure. Renal and urological anomalies in TBS include renal hypoplasia, renal dysplasia, unilateral renal agenesis, horseshoe kidney, posterior urethral valves, uretero-vesical reflux, and meatal stenosis. TBS is caused by a dominantly inherited defect in the gene encoding the SALL1 putative transcription factor, a protein possibly required for urological, renal, limb, ear, brain, and liver development. This patient had a novel mutation in this gene. The extent of renal involvement in patients with TBS should be evaluated for optimum treatment and prediction of prognosis.- - - - - - - - - - ranking = 2.9580088502998E-5keywords = valve (Clic here for more details about this article) |
7/85. growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia: confirmation of the ROCA-Wiedemann syndrome.We report on a girl with growth and mental retardation, peculiar face with ptosis, epicanthus, broad nasal bridge, low-set and abnormal ears, cleft uvula, congenital heart defect, and anal atresia. A similar condition was reported previously by Wiedemann et al. [1982: An atlas of characteristic syndromes: a visual aid to diagnosis, 2nd ed. p 114-115]. We confirm the existence of this condition that, although similar to Ohdo syndrome, seems to be an independent clinical entity. We propose that, based on the principal clinical manifestations, this condition should be identified with the acronym ROCA (retardation of growth and development, ocular ptosis, cardiac defect, and anal atresia).- - - - - - - - - - ranking = 6keywords = atresia (Clic here for more details about this article) |
8/85. Complete duplication of the bladder, urethra, vagina, and uterus in girls.OBJECTIVES.To present our experience with 3 girls with complete duplication of the bladder, urethra, vagina, and uterus, a very rare anomaly, and review published reports. Associated anomalies in these cases represent a wide spectrum. methods: We report 3 girls with complete duplication of the bladder, urethra, vagina, and uterus. The associated anomalies were different in each child. The first patient had a symphysis diastasis creating an abdominal hernia with two bladders dislocated into this space. The second patient had anal atresia with colon duplication. The third had cloacal exstrophy with one opened bladder and a second closed, with persistent urogenital sinus. Each patient was carefully evaluated, but the anatomy in 2 patients was not completely defined until surgical exploration. RESULTS: Each girl underwent surgical repair. In the first patient, iliac osteotomy, approximation of the symphysis pubis, and excision of the hernia was done. In the second, excision of the common wall between the two descending colons and posterior sagittal anorectoplasty were performed. In the third patient, staged reconstruction of the cloacal exstrophy with anastomosis of the bladders and vaginas was done. CONCLUSIONS: Complete duplication of the urogenital system in girls is associated with different anomalies. Which surgical procedures will be required depends on the multiple anatomic variables.- - - - - - - - - - ranking = 1keywords = atresia (Clic here for more details about this article) |
9/85. Imperforate anus in Feingold syndrome.A father and daughter had the characteristic findings of Feingold syndrome including microcephaly, short palpebral fissures, brachydactyly with clinodactyly of fifth fingers, and bilateral syndactyly of second to third and fourth to fifth toes. The infant presented with long-gap esophageal atresia without fistula (type A). Her father, who had short stature and learning disabilities, had congenital imperforate anus with a recto-vesical fistula. This is the first report of distal intestinal atresia in Feingold syndrome.- - - - - - - - - - ranking = 2keywords = atresia (Clic here for more details about this article) |
10/85. A novel syndrome involving primary skeletal growth and retardation in siblings.An identical pattern of malformations was found in two brothers both having microcephaly and severe developmental delay. Additionally, they had hypotelorism, epicanthic folds, and convergent strabismus. There was shortening of either the radius or the tibia and shortening of the first metacarpals. Persistently dorsally flexed fingers and toes were noted, all of which are unusually long. Both boys had a high-pitched voice and were unable to communicate verbally at the age of 4.5 years. They both developed short stature. One brother has anal atresia; the other had a pulmonary artery atresia, VSD, ASD, and an over-riding aorta. This apparently new syndrome is possibly an autosomal, or a X-linked recessive trait.- - - - - - - - - - ranking = 2keywords = atresia (Clic here for more details about this article) |
| | Next -> |