Early postnatal diagnosis of Costello syndrome
| Autor: | W. Pumberger, M Meissl, Simon Kargl |
|---|---|
| Rok vydání: | 2014 |
| Předmět: |
Adult
medicine.medical_specialty Pediatrics Mutation Missense Ultrasonography Prenatal Proto-Oncogene Proteins p21(ras) Electrocardiography Costello syndrome Pregnancy medicine Humans Craniofacial Germ-Line Mutation medicine.diagnostic_test business.industry Genetic Carrier Screening Costello Syndrome Genetic disorder Infant Newborn Cancer susceptibility Signal Processing Computer-Assisted medicine.disease Surgery Fetal Tachycardia Early Diagnosis Atrial Flutter Pediatrics Perinatology and Child Health Cardiac defects Female business Follow-Up Studies Signal Transduction |
| Zdroj: | Klinische Padiatrie. 227(1) |
| ISSN: | 1439-3824 |
| Popis: | Costello syndrome is a rare congenital disease with typical craniofacial and musculoskeletal features, cutaneous lesions, cardiac defects and cancer susceptibility. Affected patients show severe feeding difficulties for the first years of life and developmental delay. We present the case of a patient, in whom fetal tachycardia, polyhdramnios and physical characteristics led to an early diagnosis of Costello syndrome. Based on this patient we describe challenges and problems of therapeutic management of infants with Costello syndrome. |
| Databáze: | OpenAIRE |
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