Wolf-Hirschhorn syndrome
Wolf-Hirschhorn
syndrome • Wolf-Hirschhorn syndrome (4p deletion syndrome) - Ganzer Fall bei Radiopaedia
Wolf-Hirschhorn
syndrome • Wolf-Hirschhorn syndrome with partial trisomy of 1q - Ganzer Fall bei Radiopaedia
Wolf-Hirschhorn syndrome (WHS) is an extremely rare chromosomal anomaly characterized by partial deletion of the p arm of chromosome 4 (4p16.3).
Clinical presentation
There is a large clinical spectrum:
- CNS
- craniofacial
- calvarial asymmetry
- cleft lip + / - palate
- abnormally sloped forehead resulting in a "Greek warrior helmet" facies
- conductive hearing loss
- hepatic neoplasms
- hematopoietic dysfunction
- growth
- intra-uterine growth restriction (IUGR): can be severe
- cardiac anomalies
- urogenital anomalies
- skeletal/limb anomalies
Siehe auch:
- Hypertelorismus
- Kryptorchismus
- Lippen-Kiefer-Gaumen-Spalte
- Klumpfuß
- Kolobom
- chromosomale Anomalien
- Intrauterine Wachstumsretardierung
- Hypospadie
- Dysgenesie des Corpus callosum
und weiter:
Assoziationen und Differentialdiagnosen zu Wolf-Hirschhorn-Syndrom:
