Das Wolf-Hirschhorn Syndrom
| Autor: | Helmut D. Hummler, Frank Reister, H Gaspar, W Lindner, U Friebe-Hoffmann, Krisztian Lato |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Pediatrics
medicine.medical_specialty Psychomotor retardation Genitourinary system business.industry Obstetrics and Gynecology medicine.disease Short stature Hypotonia Developmental disorder Chromosome 4 Maternity and Midwifery Pediatrics Perinatology and Child Health Medicine medicine.symptom Differential diagnosis business Wolf–Hirschhorn syndrome |
| Zdroj: | Zeitschrift für Geburtshilfe und Neonatologie. 220:195-199 |
| ISSN: | 1439-1651 0948-2393 |
| Popis: | Wolf-Hirschhorn syndrome (WHS) represents a complex developmental disorder characterized by craniofacial dysmorphism, short stature, hypotonia, psychomotor retardation and seizures caused by a terminal deletion of the short arm of chromosome 4. Depending on the extent of the deletion, variable midline defects, abnormalities of the skeletal or urogenital system as well as the central nervous system are observed. Approximately 1/3 of the infants will die in the first year of life even though survival for more than 30 years has been reported. Due to current high quality standards of ultrasonography, WHS can often be diagnosed prenatally. We present a clinical case and provide an overview of the current literature. |
| Databáze: | OpenAIRE |
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