We report on a 5-generation family with multiple musculoskeletal anomalies, including: Robin-type cleft palate, rib ''dysplasia,'' scapular hypoplasia, and pectus excavatum. Robin-type clefts are known to be associated with various skeletal malformations; however, most of these include limb anomalie
โฆ LIBER โฆ
Intrafamilial variability in Hurler syndrome and Sanfilippo syndrome type A: Implications for evaluation of new therapies
โ Scribed by McDowell, Geraldine A. ;Cowan, Tina M. ;Blitzer, Miriam G. ;Greene, Carol L.
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 416 KB
- Volume
- 47
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Variable expression of rib, pectus, and
โ
Stalker, Heather J.; Zori, Roberto T.
๐
Article
๐
1997
๐
John Wiley and Sons
๐
English
โ 37 KB
๐ 2 views
Compound heterozygosity for a disease-ca
โ
Giunta, Cecilia; Steinmann, Beat
๐
Article
๐
2000
๐
John Wiley and Sons
๐
English
โ 55 KB
๐ 1 views
The classical type of Ehlers-Danlos syndrome (EDS) is an autosomal dominant connective tissue disorder characterized by skin hyperelasticity, tissue fragility, and joint hypermobility. We investigated the molecular defect of EDS in a three-generation family. Cultured dermal fibroblasts from the prop