1/17. Penoscrotal inversion, hypospadias, imperforate anus, facial anomalies, and developmental delay: definition of a new clinical syndrome.We describe a 2-month-old boy with penoscrotal inversion, hypospadias, imperforate anus, facial anomalies, developmental retardation, and a subtelomeric deletion of chromosome 13q. His phenotype with anogenital malformations and characteristic facies closely resembled two unrelated patients with minute deletions of chromosome 13q who we reported earlier. In addition, he had unilateral renal agenesis. We propose that these patients represent a clinically recognizable, novel chromosomal microdeletion syndrome. The findings indicate the presence of a major gene(s) on chromosome 13q33.2qter that regulate(s) the migration and development of ano-reno-genital cells and organs. We speculate that mutations of this developmental gene(s) may also result in more frequent congenital malformations (isolated hypospadias, uterus bicornis, unilateral renal agenesis). Additional studies are needed to further delineate the genetic defect.- - - - - - - - - - ranking = 1keywords = anus (Clic here for more details about this article) |
2/17. Sacrococcygeal teratoma with anorectal malformation.A 7-month-old child presented with imperforate anus, penoscrotal hypospadias and transposition, and a midline mucosa-lined perineal mass. At surgery the mass was found to be supplied by the median sacral artery. It was excised and the anorectal malformation was repaired by posterior sagittal anorectoplasty. Histologically the mass revealed well-differentiated colonic tissue. The final diagnosis was well-differentiated sacrococcygeal teratoma in association with anorectal malformation.- - - - - - - - - - ranking = 0.2keywords = anus (Clic here for more details about this article) |
3/17. tracheoesophageal fistula, gastrointestinal abnormalities, hypospadias, and prenatal growth deficiency.We studied 2 sibs, born to consanguineous parents, who presented with an MCA pattern which includes low birthweight, tracheoesophageal fistula, duodenal atresia, extrahepatic biliary atresia, hypoplastic pancreas, and hypospadias. This constellation of congenital anomalies appears to be a previously unreported autosomal recessive syndrome. A computerized search of the data files of the Spanish Collaborative Study of Congenital Malformations (ECEMC) identified 3 other unrelated infants with intestinal atresias, hypospadias, and low birth weight. These cases may represent a milder expression of the same syndrome.- - - - - - - - - - ranking = 0.60123783088762keywords = atresia (Clic here for more details about this article) |
4/17. tracheoesophageal fistula and amastia with other anomalies: an unusual association.An unusual association of esophageal atresia (EA) and tracheoesophageal fistula (TEF) with left amastia and multiple congenital anomalies is presented because of its rarity and successful management. The other associated congenital anomalies included a high variety of anorectal malformation (high-arm), hypospadias and absent left pectoral muscles with weak shoulder girdle. This case was successfully managed by multi-staged operations to tackle the various associated congenital anomalies. Such a rare association has not been reported previously in the literature.- - - - - - - - - - ranking = 0.20041261029587keywords = atresia (Clic here for more details about this article) |
5/17. growth hormone deficiency, wormian bones, dextrocardia, brachycamptodactyly, and other midline defects.We report on a 17-month-old boy with Wormian bones, short stature, growth hormone deficiency, developmental delay, brachycamptodactyly, dextrocardia, cryptorchidism, midshaft hypospadias, hypoplastic left kidney, and imperforate anus. This unique combination of abnormalities has not been reported previously.- - - - - - - - - - ranking = 0.2keywords = anus (Clic here for more details about this article) |
6/17. prenatal diagnosis of Opitz (BBB) syndrome in the second trimester by ultrasound detection of hypospadias and hypertelorism.prenatal diagnosis in a kindred with the Opitz (BBB) syndrome is presented. The inheritance is consistent with either autosomal dominant inheritance with sex limited expression or X-linked inheritance. The abnormalities in the kindred consist of hypertelorism, hypospadias, ambiguous genitalia, urocolic fistula, imperforate anus, mental retardation, diaphragmatic hernia, and malrotation with volvulus. A male fetus at 19 weeks was found by ultrasound to have hypertelorism and hypospadias with a small phallus consistent with the syndrome. The diagnosis was confirmed by pathologic examination after pregnancy termination. This is the first report of prenatal diagnosis of Opitz syndrome by ultrasonographic demonstration of hypertelorism and hypospadias in the second trimester.- - - - - - - - - - ranking = 0.2keywords = anus (Clic here for more details about this article) |
7/17. Ectopic vas deferens, imperforate anus and hypospadias: a new triad.An ectopic vas deferens is a rare congenital anomaly frequently associated with rectal abnormalities. We describe 2 patients with ectopic vas deferens associated with an imperforate anus and hypospadias. There are 19 previous reports of patients with ectopic vas deferens, 5 of which were bilateral. One of our patients, a child with bilateral ectopic vas deferens, had the highest reported insertion of an ectopic vas deferens. The embryology and management of this rare condition are reviewed.- - - - - - - - - - ranking = 1keywords = anus (Clic here for more details about this article) |
8/17. Total laryngotracheal hypoplasia in a case of G syndrome.We report a case of congenital hypoplasia of the larynx and trachea in the presence of an essentially normal cartilaginous structure. To our knowledge this abnormality is not recognised in the literature. Previously reported hypoplastic laryngeal anomalies have all shown anatomical defects ranging from clefts to atresia (Smith and Bain 1965, Gatti et al., 1987). Similarly total congenital tracheal stenosis is accompanied by abnormalities of the cartilaginous structure, usually complete tracheal rings. These types of anomaly typically present either at, or soon after, birth and are associated with other congenital abnormalities. In this particular case the laryngotracheal hypoplasia occurred in the context of a herditary condition of multiple congenital abnormalities known as G syndrome (also known as Opitz-Frias syndrome or the Opitz-G syndrome).- - - - - - - - - - ranking = 0.20041261029587keywords = atresia (Clic here for more details about this article) |
9/17. Clinical aspects, diagnosis, and treatment of the Kaufman syndrome (hydrocolpos, hypospadias, polydactyly).Three girls with the Kaufmann syndrome are reported. In these children the hydrocolpos was not caused by a vaginal atresia but by a stenosis of the vaginal introitus combined with female hypospadias. These children suffered from additional micrognathia. The parents of two of the children suffered from additional micrognathia. The parents of two of the children were related to each other. No such family history could be discovered in the third child. It is possible that this syndrome is autosomal recessive and sexlinked. As the associated malformations may endanger life and therefore necessitate immediate operation, the hydrocolpos should be treated at first conservatively. Later on, corrective operations should be performed.- - - - - - - - - - ranking = 0.20041261029587keywords = atresia (Clic here for more details about this article) |
10/17. Hydrometrocolpos, postaxial polydactyly, congenital heart disease, and anomalies of the gastrointestinal and genitourinary tracts: a rare autosomal recessive syndrome.Nine cases with the hydrometrocolpospolydactyly syndrome (4 males, 5 females) from four unrelated families are presented. Leading symptoms of this rare disorder were hydrocolpos and postaxial polydactyly. Three affected girls had urinary hydrocolpos without vaginal septum or imperforate hymen, one had partial vaginal atresia, and one had no hydrometrocolpos. Glandular hypospadias and prominent scrotal raphe are added to the spectrum of malformations in this disorder in males. The literature is reviewed and problems in genetic counseling in this autosomal recessive disorder are discussed.- - - - - - - - - - ranking = 0.20041261029587keywords = atresia (Clic here for more details about this article) |
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