Bardet-Biedl syndrome associated with vaginal atresia: a case report
This is a case report of Bardet-Biedl syndrome associated with vaginal atresia diagnosed in a 15-year-old girl. She had mild mental retardation; obesity; nistagmus, retinitis pigmentosa and optic atrophy in both eyes; accessory digit on the left hand; polydactyly in lower extremities; a mobil...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2003-07-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/2904 |
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| Summary: | This is a case report of Bardet-Biedl syndrome associated with vaginal atresia diagnosed in a 15-year-old girl. She had mild mental retardation; obesity; nistagmus, retinitis pigmentosa and optic atrophy in both eyes; accessory digit on the left hand; polydactyly in lower extremities; a mobile, painful, nonfixed mass of 6 cm in diameter in the pelvic region; a palpable cystic mass in front of the rectal wall; and no vaginal opening. Secondary sex characteristics were determined. The vaginal atresia was distinguished from vaginal agenesis by the presence of proximal vagina in radiological examination.
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| ISSN: | 0041-4301 2791-6421 |