| Autor: |
F, Arena, S, Cordaro, C, Romeo, G, Scalfari, L, Gitto, M, Barbalace, G, Romeo |
| Rok vydání: |
1999 |
| Předmět: |
|
| Zdroj: |
La Pediatria medica e chirurgica : Medical and surgical pediatrics. 21(2) |
| ISSN: |
0391-5387 |
| Popis: |
Mc Kusick-Kaufman Syndrome (SMK) is an autosomal recessive multiple malformation Syndrome characterized by hydrometrocolpos and polydactyly. This Syndrome is more frequent in females, whose parents are first-degree cousins (frequency 1:8 liveborn). We describe two cases of SMK: a male and a female. Patients were siblings and their parents were first cousins. The first child presented postaxial hexadactily, of the hands and feet, cardiovascular malformation and Arnold-Chiari II malformation. The baby died on the 17th day of life, for neurosurgical complications. Second baby, in which a prenatal ultrasonography showed a large cystic dilatation in the pelvis, presented with urinary hydrometrocolpos associated with persistent urogenital sinus (UGS) and polydactyly. The patient was temporary treated with intermittent vaginal catheterization. At age of 6 months she underwent reconstructive surgery via the anterior sagittal transanorectal approach (ASTRA), previous creation of a colostomy. Thirty-two months of the operation, the patient is continent for stool and urine and the vagina looks normal. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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