The KBG syndrome: Confirmation of autosomal dominant inheritance and further delineation of the phenotype
✍ Scribed by Mustafa Tekin; Aslı Kavaz; Merih Berberoğlu; Suat Fitoz; Mesiha Ekim; Gönül Öcal; Nejat Akar
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 123 KB
- Volume
- 130A
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
## Abstract Yunis–Varon syndrome (YVS) is a rare autosomal recessive condition characterized by limb defects, ossification defects, generalized hypotrichosis and, frequently, a severe neonatal course. The molecular basis is unknown. We report on a newborn infant with previously undescribed findings
Weaver syndrome (WS), a condition first described in 1974 by Weaver et al., consists of macrosomia, advanced skeletal age, characteristic pattern of facial and radiographic anomalies, and contractures. Although there have been three reports of close relatives (sibs or both parent and offspring) affe