Bilateral renal agenesis, cardiac hypertrophy and pancytopenia, a new syndrome?
| Autor: | S A Lynch, S C Robson, C Wright |
|---|---|
| Rok vydání: | 1998 |
| Předmět: |
Adult
Male medicine.medical_specialty Pathology Pancytopenia Cardiomegaly Prenatal diagnosis Kidney Pathology and Forensic Medicine Diagnosis Differential Fetus Pregnancy Prenatal Diagnosis hemic and lymphatic diseases Internal medicine parasitic diseases medicine Humans Abnormalities Multiple Renal agenesis Genetics (clinical) business.industry Mitomycin C Syndrome General Medicine Fetal Blood medicine.disease Bilateral Renal Agenesis Fanconi Anemia Cardiac hypertrophy Pediatrics Perinatology and Child Health Cardiology Female Anatomy business |
| Zdroj: | Clinical Dysmorphology. 7:285-288 |
| ISSN: | 0962-8827 |
| Popis: | We report a fetus with an unusual combination of features including bilateral renal agenesis, hydrops, cardiac hypertrophy and pancytopenia. There was haematological evidence of apoptosis with nuclear degeneration of megakaryocytes. The combination of structural anomalies associated with pancytopenia has many features reminiscent of Fanconi's anaemia although Mitomycin C studies were normal. There was no evidence of infection as a cause for the pancytopenia. We suggest that fetal blood sampling should be considered in similar cases with renal agenesis. Some may have a milder form of pancytopenia and may not present with hydrops thereby not prompting further haematological investigation. |
| Databáze: | OpenAIRE |
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