Proteus syndrome: presenting as a large ovarian cyst
Abnormal huge progressive enlargement and fusion of digits with limitation of joint movements (macrodactyly, syndactyly, and arthrogryposis) are usually part of a syndromic manifestation. When associated with mosaic skeletal overgrowths, vascular malformations and internal organ cysts it could be...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Barpeta Obstetrics and Gynaecological Society
2020-01-01
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| Series: | New Indian Journal of OBGYN |
| Subjects: | |
| Online Access: | https://journal.barpetaogs.co.in/pdf/06131.pdf |
| Summary: | Abnormal huge progressive enlargement and fusion of digits with limitation of joint movements (macrodactyly, syndactyly, and arthrogryposis) are usually part of a syndromic manifestation. When associated with mosaic skeletal overgrowths, vascular malformations and internal organ cysts it could be a part of the very rare Proteus syndrome. Here we are presenting a case with macrodactyly, syndactyly, arthrogyrposis and bilateral ovarian cysts. When clinical criteria remain inconclusive the diagnosis of Proteus syndrome (PS) is established by identification of a heterozygous pathogenic variant in AKT1 gene, which here could not be done because of economical constraints. |
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| ISSN: | 2454-2334 2454-2342 |