Twin Infant with Lymphatic Dysplasia Diagnosed with Noonan Syndrome by Molecular Genetic Testing
| Autor: | Santhosh Somashekar, Cristina Navarrete, Maria M. Rodriguez, Deepan Mathur |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2014 |
| Předmět: |
musculoskeletal diseases
Male Pathology medicine.medical_specialty Lymphangiectasis DNA Mutational Analysis Autopsy Clinicopathologic Case Protein Tyrosine Phosphatase Non-Receptor Type 11 Anasarca Short stature Chylothorax Pathology and Forensic Medicine pulmonary lymphangiectasis Fatal Outcome medicine Diseases in Twins Twins Dizygotic Humans skin and connective tissue diseases Lung genomic DNA sequence Lymphatic Abnormalities business.industry Noonan Syndrome Infant General Medicine medicine.disease PTPN11 Lymphatic system Dysplasia lymphatic dysplasia Pediatrics Perinatology and Child Health Noonan syndrome medicine.symptom business |
| Zdroj: | Fetal and Pediatric Pathology |
| ISSN: | 1551-3823 1551-3815 |
| Popis: | Noonan Syndrome is an autosomal dominant disorder characterized by short stature, congenital heart defects, developmental delay, dysmorphic facial features and occasional lymphatic dysplasias. The features of Noonan Syndrome change with age and have variable expression. The diagnosis has historically been based on clinical grounds. We describe a child that was born with congenital refractory chylothorax and subcutaneous edema suspected to be secondary to pulmonary lymphangiectasis. The infant died of respiratory failure and anasarca at 80 days. The autopsy confirmed lymphatic dysplasia in lungs and mesentery. The baby had no dysmorphic facial features and was diagnosed postmortem with Noonan syndrome by genomic DNA sequence analysis as he had a heterozygous mutation for G503R in the PTPN11 gene. |
| Databáze: | OpenAIRE |
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