1/37. Bilateral wilms tumor in a boy with severe hypospadias and cryptochidism due to a heterozygous mutation in the WT1 gene.Mutations in the WT1 gene causing Wilms tumors were first reported in wagr syndrome (wilms tumor, aniridia, Genitourinary malformation, mental Retardation) and Denys Drash syndrome (pseudohermaphroditism, wilms tumor, nephropathy), but only in a few patients with hypospadias and cryptorchidism without other signs of Denys Drash (DDS) or wagr syndrome WT1 mutations were identified. We report a boy, who was born in 1989 with hypospadias and bilateral cryptorchidism. Previous karyotyping and endocrine studies had ruled out any known cause of male pseudohermaphroditism. Subsequently, he developed a bilateral wilms tumor, which was detected by palpation at the age of 15 months during a routine visit by the general pediatrician. Because of its extensive size, surgery and chemotherapy were needed for treatment. Analysis of the WT1 gene was performed 5 y after diagnosis and revealed a C to T transition in one allele generating a stop codon at codon 362 and subsequently leading to a truncated protein with loss of its ability to bind to dna. No signs of DDS or wagr syndrome are present in the boy. The work up of this patient and the so far known few comparable cases from the literature lead to the conclusion that in newborns with severe urogenital malformations not due to known chromosomal or endocrine disorders mutational screening of the WT1 gene should be performed, to evaluate the high risk of developing a wilms tumor. We favor mutational screening in these patients as an easy tool for investigation, because in the future it will probably decrease the necessity of frequent control visits in patients without a WT1 mutation.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
2/37. Hypospadiac or intact foreskin graft for syndactyly repair.BACKGROUND/PURPOSE: syndactyly is one of the most common malformations of the hands and feet. Repair may necessitate the use of a full-thickness skin graft. The prepuce is an excellent choice for grafting because of its lack of hair, elasticity, and degree of thickness. The authors report 4 cases of syndactyly repair using foreskin for grafting. methods: The authors reviewed 4 cases of syndactyly repaired at Children's Hospital, where foreskin was used for grafting. There was one congenital band syndrome and 3 cases of simple syndactyly. Three patients had a normal prepuce and underwent simultaneous circumcision. One patient presented with coronal hypospadias and underwent simultaneous meatal advancement and glanuloplasty. RESULTS: All patients experienced a satisfactory outcome with no graft loss and no complications. No grafts showed hair, and 3 grafts showed slight relative hyperpigmentation. Excess foreskin was available in all cases of simple syndactyly. Concominant hypospadias repair did not increase the morbidity of the surgery. CONCLUSION: The intact or hypospadiac foreskin is an excellent choice for a free graft in syndactyly repair when available.- - - - - - - - - - ranking = 0.5keywords = malformation (Clic here for more details about this article) |
3/37. 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 = malformation (Clic here for more details about this article) |
4/37. Combination of hypospadias and maldescended testis as cardinal symptoms in gonosomal chromosome aberrations.Intersexual genitals or distinct hypospadias in combination with maldescended testis can be caused by endocrinological as well as chromosomal abnormalities. Even in early childhood such clinical findings require specific diagnostic procedures and subsequent treatment which is often invasive but has special importance as regards the early diagnosis of gonadal tumors. We present a child with cryptorchidism on the right, inguinal testis on the left and penoscrotal hypospadias. Cytogenetic analyses revealed a mosaic karyotype 45, X/46, X, idic (Yp) with unequal distribution of the mosaic in different tissues. In consequence of this chromosomal aberration the patient had mixed gonadal dysgenesis which is associated with an increased risk of tumor development in the aberrant gonads. The principles of pediatric, urological, cytogenetic and endocrinological diagnostics and the mode of data collection in the presented case are described and discussed. Furthermore, a protocol for preventive screening is presented, which combines urological and endocrinological investigations in males with malformations of the genito-urinary tract to minimize the risk of tumor development in the aberrant gonads.- - - - - - - - - - ranking = 0.5keywords = malformation (Clic here for more details about this article) |
5/37. Germline wilms tumor suppressor gene (WT1) mutation leading to isolated genital malformation without wilms tumor or nephropathy.Mutations of the wilms tumor suppressor gene (WT1 ) have been described only in patients with syndromes associated with urogenital malformation and wilms tumor or nephropathy. We present a male patient with an isolated genital malformation caused by a WT1 mutation.- - - - - - - - - - ranking = 3keywords = malformation (Clic here for more details about this article) |
6/37. hirschsprung disease, mental retardation and dysmorphic facial features in five unrelated children.We report five patients with hirschsprung disease, severe mental retardation and dysmorphic facial features including hypertelorism, prominent forehead and dysmorphic ears. All four boys had hypospadias. All had postnatally retarded growth. One of them had a de novo apparently balanced translocation 46,XY,t(2;11)(q22.2;q21). There are several reports on patients with hirschsprung disease, mental retardation and various dysmorphic features. Some of them, especially those reported by Tanaka et al. [(1993) Pediatr Neurol 9:479-481], Lurie et al. [(1994) Genet Couns 5:11-14] and Mowat et al. [(1998) J Med Genet 35:617-623] closely resemble our patients suggesting that they have the same malformation syndrome.- - - - - - - - - - ranking = 0.5keywords = malformation (Clic here for more details about this article) |
7/37. Additional malformations in femoral hypoplasia: unusual facies syndrome.This syndrome comprises of bilateral femoral hypoplasia and unusual facies comprises of short nose with broad tip, elongated philtrum, thin upper lip, small lower jaw, cleft palate and antimongolian slant of palpebral fissure. Etiology is idiopathic, sporadic, few families have been reported to have autosomal dominant inheritance. We report a case with the additional finding of unilateral complete aplasia of femur, encephalocele, complete cleft lip, bilateral absence of 5th metatarsal and toe and hypospadias. The mode of inheritance appears to be sporadic mutation in this case.- - - - - - - - - - ranking = 2keywords = malformation (Clic here for more details about this article) |
8/37. Translevator anal anomalies with cutaneous fistulae passing deep to the scrotum.methods: The authors present a series of 9 patients collected from 4 centers with translevator anal anomalies, each of which has a fistula tracking forward deep to the scrotum and opening at the peno-scrotal junction. Whereas some would appear to be covered ani in type, others are deeper and would appear to fit in with an intermediate type of classification emphasizing the idea of a "spectrum" of malformation. RESULTS: The anatomic arrangement, associated anomalies (eg, 2 had hypospadias), and surgical management is described briefly in each case. Careful examination may be necessary to identify the fistula. CONCLUSIONS: It is recommended that the surgery be individualized depending on the findings. On a theoretical embryologic basis there is abnormality in the formation of the outer genital folds, and there also may be abnormality in some cases of the inner genital folds.- - - - - - - - - - ranking = 0.5keywords = malformation (Clic here for more details about this article) |
9/37. Split hand/split foot, iris/choroid coloboma, hypospadias and subfertility: a new developmental malformation syndrome?This paper presents a patient with the following malformations: split hand and split foot on the left side, a hypoplastic fifth ray of the right hand and a hypoplastic first ray of the right foot with a small cleft between the first and second ray; eye abnormalities which consist of a complete iris coloboma of the left eye in an atypical position (cranio-temporal) and a coloboma of the choroid in the right eye; a glandular hypospadias and terato-zoospermia. Since split hand/split foot can be caused by mutations in the p63 gene, mutation analysis of this gene was performed. However, sequencing analysis did not reveal a mutation. This malformation complex may represent a new syndrome.- - - - - - - - - - ranking = 3keywords = malformation (Clic here for more details about this article) |
10/37. 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 = 3keywords = malformation (Clic here for more details about this article) |
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