1/112. Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother.A male patient with aphallia, anal stenosis, tetralogy of fallot, multiple vertebral anomalies including sacral agenesis and central nervous system (CNS) malformations was born after a pregnancy complicated by poorly controlled maternal diabetes. Aphallia is an extremely rare abnormality and can be part of the urorectal septum malformation sequence (URSMS). While aphallia has not been reported in infants of diabetic mothers, urogenital malformations are known to occur with increased frequency. Two female products of pregnancies complicated by diabetes presented with multiple malformations including anal atresia and recto-vaginal fistula consistent with the diagnosis of URSMS. The three patients share CNS, cardiac, and vertebral anomalies, abnormalities secondary to abnormal blastogenesis and characteristic of diabetic embryopathy. URSMS is also caused by abnormal blastogenesis. Therefore, this particular malformation should be viewed in the context of the multiple blastogenetic abnormalities in the cases reported here. The overlap of findings of URSMS in our cases with other abnormalities of blastogenesis, such as VATER association or sacral agenesis is not surprising, as these associations are known to lack clear diagnostic boundaries.- - - - - - - - - - ranking = 1keywords = gene (Clic here for more details about this article) |
2/112. The same mutation affecting the splicing of WT1 gene is present on frasier syndrome patients with or without Wilms' tumor.Denys-Drash and Frasier syndromes are rare human disorders that associate nephropathy with gonadal and genital abnormalities. In DDS there is a predisposition to Wilms' tumor. Heterozygous point mutations in the Wilms' tumor, type1 gene (WT1), particularly those altering the zinc finger (ZF) encoding exons, have been reported in most DDS patients, while mutations in intron 9 of the same gene cause FS. This paper describes two cases of DDS, one FS and one patient with Wilm's tumor and intersex genitalia, in which mutations were searched by sequencing the exons 8 and 9 of WT1 gene. Patient 1 carried a missense point mutation in exon 8 (ZF2), converting a CGA-Arg codon to a TGA-stop codon. Patient 2 presented a single nucleotide deletion within exon 9 (ZF3) introducing a premature chain termination at codon 398. patients 3 and 4 had a C-->T transition at position 4 of the second alternative splice donor site of exon 9 (this mutation was detected in peripheral blood and in tumor derived dna of patient 3). However, patient 3 had previously developed a Wilms' tumor. This is the first case of Wilms' tumor development in a phenotypically and genetically confirmed case of FS.- - - - - - - - - - ranking = 1.3333333333333keywords = gene (Clic here for more details about this article) |
3/112. A case report of caudal regression syndrome associated with an intraspinal arachnoid cyst.We report here a rare case of caudal regression syndrome associated with an intraspinal arachnoid cyst. The patient was a 6-month-old baby girl with multicomplex congenital abnormalities: sacrococcygeal dysgenesis and ventral curvature, large terminal cyst (myelocystocele), spinal arachnoid cyst, cerebellar hypertrophy (suspected), high imperforate anus, partial dysgenesis of the large intestine, omphalocele, atresia of the vagina, bilateral incomplete ureter duplication, incomplete pseudoduplicated bladder and bilateral talipes equinovarus. We performed plastic repair of the myelocystocele and perineal lesion for caudal regression syndrome and partial removal of the cyst wall for the intraspinal arachnoid cyst. She has been well for 3 years postoperatively, and her mental development is normal.- - - - - - - - - - ranking = 0.33333333333333keywords = gene (Clic here for more details about this article) |
4/112. Congenital short colon with imperforate anus (pouch colon). Report of a case.We report a case of a persistent cloaca and pseudoexstrophy associated with congenital pouch colon in a native-born American female child. This unusual anomaly occurs in two clinical settings. It has been reported in india as an isolated anomaly occurring primarily in males. Pouch colon also occurs in female patients with pseudoexstrophy or closed cloacal exstrophy. The typical anatomic features of this anomaly are discussed.- - - - - - - - - - ranking = 66.69856398053keywords = anomaly (Clic here for more details about this article) |
5/112. Clear cell adenocarcinoma of the cervix associated with a rare genitourinary malformation.BACKGROUND: Cervical adenocarcinoma and genitourinary malformations are relatively common disorders, yet their coexistence is rare. CASE: A 49-year-old woman developed clear cell adenocarcinoma in the atretic hemicervix of a communicating uterus type 7 and had ipsilateral renal agenesis. Compared with the unaffected right hemicervix, only the tumor-involved glands of the atretic left hemicervix contained ciliated tuboendometrial cells. Four and a half years after radical hysterectomy and pelvic radiation, she showed no evidence of recurrence. CONCLUSION: In contrast to current opinion, communicating uteri type 7 are associated with ipsilateral renal agenesis. Our histologic findings support the hypothesis that tuboendometrial cells are the cells of origin for cervical clear-cell adenocarcinoma.- - - - - - - - - - ranking = 0.33333333333333keywords = gene (Clic here for more details about this article) |
6/112. Partial caudal duplication in a newborn associated with meningomyelocele and complex heart anomaly.BACKGROUND: Caudal duplication is a spectrum of rare congenital anomalies with a possible heterogeneous pathogenesis including incomplete separation of monovular twins. methods: We report an autopsy case of a full-term infant with incomplete caudal duplication syndrome associated with multiple anomalies. RESULTS: These anomalies included a duplicated penis; double urinary bladder with an attenuated tunica muscularis; duplication of lower bowel with two ilia, appendices and colons; colonic hypogangliosis and left imperforated anus associated with rectourethral fistula. Other anomalies consisted of sacral meningomyelocele, sacral duplication with hypoplastic left sacrum and pelvic bones, muscle atrophy and hypoplasia of the left lower extremity, abnormal lobation of liver with stomach entrapment, omphalocele, and right atrial isomerism syndrome. The complex pattern of anomalies suggests the possibility that partial caudal duplication might be part of the spectrum of conjoined twinning.- - - - - - - - - - ranking = 89.26475197404keywords = anomaly, gene (Clic here for more details about this article) |
7/112. Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family.Renal-coloboma syndrome includes abnormalities in the urogenital and ocular systems as its primary manifestations, although it can be associated with abnormalities in other systems as well. This syndrome is caused by mutations in the PAX2 gene and is transmitted as an autosomal dominant trait. We report a family in which at least 7 members have manifestations of renal-coloboma syndrome, including two in whom renal disease was diagnosed prenatally by ultrasound examination. A pathogenic frame-shift mutation (619insG) was found in the PAX2 gene in affected family members, who show remarkable variability in both the ocular and renal manifestations of the syndrome.- - - - - - - - - - ranking = 0.33333333333333keywords = gene (Clic here for more details about this article) |
8/112. A novel WT1 gene mutation associated with wilms' tumor and congenital male genitourinary malformation.WT1 is located on the short arm of human chromosome 11 and consists of 10 coding exons. Mutations of this gene have been reported to be the cause of Wilms' tumor, congenital male genitourinary malformations, and/or renal disorders. We describe here a novel WT1 gene mutation, i.e. a point mutation at intron 7 ( 2) in both the tumor and the germline cells of a patient with Wilms' tumor and congenital male genitourinary malformation, but without renal disorder. The position of the mutation is at a splice donor site of intron 7, which causes the splicing out of exon 7 and generates a truncated protein. This type of mutation in the WT1 zinc finger domain has not been reported before. The mutation is of paternal origin and is heterozygous in the germline cells. In the tumor cells, however, the maternal allele is largely lost, from 11p12 to 11p15, which results in maternal loss of heterozygosity. These results, together with the data from previous reports, suggest that WT1 may function in gonadogenesis, nephrogenesis, and Wilms' tumor tumorigenesis.- - - - - - - - - - ranking = 112.88684333874keywords = wilms, gene (Clic here for more details about this article) |
9/112. Two cases of the caudal duplication anomaly including a discordant monozygotic twin.We present two unrelated patients with various duplications in the caudal region. One patient presented with a duplication of the distal spine from L4, left double ureter, duplication of the vagina and cervix, and duplication of the distal colon. The second patient was diagnosed with a duplication of the colon, bladder, vagina and uterus. The first patient had an unaffected monozygotic twin sister. Dominguez et al. [1993: Am J Dis child 147:1048-1052] presented six similar cases, and introduced the name "caudal duplication syndrome." The pathogenesis of the caudal duplication anomaly is unclear. The possibility of a polytopic primary developmental field defect or a disruptive sequence are discussed. On the other hand, somatic or germline mutations in certain developmental genes could be involved, as illustrated by the mouse mutations disorganisation and fused. dna-analysis of the AXIN1 gene, the human homologue of the gene responsible for fused, performed in our first patient, did not show any apparent pathogenic mutation.- - - - - - - - - - ranking = 111.83093996755keywords = anomaly, gene (Clic here for more details about this article) |
10/112. Clinical and embryologic aspects of penile duplication and associated anomalies.OBJECTIVES: To report 2 cases of penile duplication and review the literature in an attempt to categorize the associated anomalies in relation to the degree of penile duplication. Embryologic considerations of this rare anomaly are also reviewed. methods: We report 2 distinct cases of diphallia. In the first case, true complete penile duplication was associated with multiple malformations, including a cloacal anomaly, colon and bladder duplication, a horseshoe kidney, a bifid scrotum with undescended testes, a hypoplastic right leg, and a ventricular septum defect. The second patient presented with true, complete diphallia and bladder and urethral duplication but an absence of other anomalies. The patients were individually treated according to the concomitant malformations. A review of published reports allowed a classification of associated anomalies in 77 cases of diphallia, according to the degree of penile duplication. RESULTS: The first patient underwent a series of staged surgical repairs, including correction of the congenital heart anomaly, separation of the urogenital and gastrointestinal tract and resection of the duplicate terminal colon, excision of the smaller bladder and underdeveloped duplicate penis, bilateral orchiopexy, and hypospadias correction. The second patient underwent bladder fusion and excision of a urethrorectal fistula. Penile reconstruction was left for a later stage. An analysis of the cases available in published studies suggests that diphallia is often associated with a wide spectrum of anomalies that vary from severe malformations to less significant variations of human anatomy. CONCLUSIONS: Penile duplication is a rare anomaly. Thorough investigations are mandatory in all cases to reveal underlying congenital malformations that are potentially life threatening and require immediate surgical correction. Treatment should always be individualized according to the degree of penile duplication and the extent of the concomitant anomalies.- - - - - - - - - - ranking = 88.931418640707keywords = anomaly (Clic here for more details about this article) |
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