A fetus with sirenomelia, omphalocele, and meningomyelocele, but normal kidneys

Autor: Nancy C. Chescheir, M. Cathleen McCoy, Lisa M. Flannagan, Georgia C. Altman, Jeffrey A. Kuller
Rok vydání: 1994
Předmět:
Zdroj: Teratology. 50:168-171
ISSN: 1096-9926
0040-3709
DOI: 10.1002/tera.1420500212
Popis: Sirenomelia, which has been reported for more than 450 years, is the most se- vere form of caudal dysplasia. This disorder is clas- sically associated with agenesis or severe dyspla- sia of the urinary tract. A 27-year-old gravida 3 para 0020 presented at 19 weeks' gestation with monoamniotic twins, one normal and one with sirenomelia. The pregnancy miscarried following invasive diagnostic testing. Autopsy confirmed the findings of sirenomelia, meningomyelocele, omphalocele, persistent clo- aca, and two normal kidneys. The abnormalities accompanying sirenomelia appear as a spectrum. The pathogenic theories of sirenomelia are reviewed in light of this case with normal kidneys. o 1994 ~~iey-t~ss, Inc. Sirenomelia, so named for the Greco-Roman mythi- cal siren with the tail of a fish and human upper body, has intrigued investigators for hundreds of years. Two reviews of many of the cases in the literature have been compiled. The first, by Kampmeier ('27), covered 79 reports from 1542-1927. The second (Stocker, '87) com- piled cases from 1928-1982, and reported on 33 cases from the Armed Forces Institute of Pathology. Varia- tions of the "fused' lower extremities are described, as are the accompanying anomalies. Every case in both these reviews had severe renal dysplasia or agenesis. However, two recent cases of children with sirenomelia and normally functioning renal tissue have been re- ported (Savader et al., '89; Murphy et al., '92; Clarke et al., '93). These children had more lateralization of limb tissue than most in the literature. Our patient demonstrated severe sirenomelia, mul- tiple other anomalies, and the presence of normal kid- neys. The presence of these normal kidneys forces a reappraisal of previous hypotheses regarding the pathogenesis of this disorder. CASE REPORT
Databáze: OpenAIRE
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