Long-term survival with cloacal dysgenesis sequence.
Summary of "Long-term survival with cloacal dysgenesis sequence."
Cloacal dysgenesis sequence (CDS) is a rare and lethal malformation. We report such a case of long-term survival, currently to 12 years of age. In the fetal period, she received a timely placement of vesico-amniotic shunt for a megabladder due to a severe urethral obstruction. Postnatally, cystostomy and colostomy were created because of no perineal opening of urethra, vagina, and anus. Anorectoplasty, construction of efferent conduit, and colostomy closure were performed at 4 years of age. Ileovaginoplasty and ileovesicostomy which was a Mitrofanoff-type of conduit, and labioplasty were performed at the age of 11 years. To the best of our knowledge, only five survivors with CDS over 1 year of age have been reported.
Department of Pediatric Surgery, Ibaraki Children's Hospital, 3-3-1 Futabadai, Mito-city, Ibaraki, 311-4145, Japan, email@example.com.
This article was published in the following journal.
Name: Pediatric surgery international
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/22170701
- DOI: http://dx.doi.org/10.1007/s00383-011-3020-3
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This type of gonadal defect is characterized by a female phenotype, normal to tall stature, bilateral streak or dysgenetic gonads, and a 46,XY karyotype. This XY gonadal dysgenesis is a heterogenous condition with variant forms resulting from a structural abnormality on Y chromosome, a mutation in SRY gene or a mutation in autosomal genes. The syndrome is sometimes called "pure gonadal dysgenesis," but this designation may also refer to gonadal dysgenesis with a 46,XX karyotype (GONADAL DYSGENESIS, 46,XX).
Health insurance to provide full or partial coverage for long-term home care services or for long-term nursing care provided in a residential facility such as a nursing home.
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