## 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
The syndrome of Yunis and Varón—report of a further case
✍ Scribed by Hughes, H. E. ;Partington, M. W.
- Publisher
- John Wiley and Sons
- Year
- 1983
- Tongue
- English
- Weight
- 327 KB
- Volume
- 14
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
We describe two unrelated patients with Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation). The typical presentation is the discovery of fixed dilated pupils in a hypotonic infant. The iris abnormality is specific and seems pathognomonic of Gillespie syndrome. It can be
## Abstract Crisponi syndrome was described in the original paper in 17 patients form 12 families [Crisponi, 1996: Am J Med Genet 62:365–371]. It is characterised by episodes of muscle contraction in response to external stimuli and intermittent hypethermia with neonatal onset. The disease is often