Prenatal diagnosis of multiple pterygium syndrome associated with Klinefelter syndrome
Autor: | Mesut Oktem, Umit Kaya, Arda Lembet, Zerrin Yilmaz, Murat Derbent |
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Rok vydání: | 2003 |
Předmět: |
Adult
congenital hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Pathology Genetic counseling Prenatal diagnosis Genetic Counseling Pterygium Ultrasonography Prenatal Diagnosis Differential Klinefelter Syndrome Pregnancy Prenatal Diagnosis medicine Humans Abnormalities Multiple Hypertelorism Genetics (clinical) business.industry Obstetrics and Gynecology Cystic hygroma Syndrome medicine.disease Pregnancy Trimester Second Female Multiple pterygium syndrome Differential diagnosis Klinefelter syndrome medicine.symptom business |
Zdroj: | Prenatal diagnosis. 23(9) |
ISSN: | 0197-3851 |
Popis: | A nonlethal form of multiple pterygium syndrome (MPS) was diagnosed prenatally at 16 weeks of gestation with associated Klinefelter syndrome in the same fetus. The ultrasound findings were cystic hygroma, hypertelorism, micrognathia, low-set ears, flexion contractures of upper and lower extremities and rocker-bottom foot. Genetic amniocentesis revealed a 47,XXY karyotype. After genetic counseling, the parents decided to have a therapeutic abortion. We presented this case for the purpose of further describing the early ultrasound findings and clinical features of multiple pterygium syndromes. Also, what makes our patient unique is the coincidental presence of Klinefelter syndrome with MPS. To our knowledge, this is the first case in the literature in which a 47,XXY karyotype has been found in a fetus with multiple pterygium syndrome. The importance of delineating the exact subtype of MPS and making a precise differential diagnosis becomes critical during the process of evaluation of patients with MPS. |
Databáze: | OpenAIRE |
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