Hardikar syndrome: A new syndrome with c
โ Cools, F.; Jaeken, J.
๐ Article
๐
1997
๐ John Wiley and Sons
๐ English
โ 9 KB
๐ 1 views
โฆ LIBER โฆ
Variable expression of rib, pectus, and scapular anomalies with Robin-type cleft palate in a 5-generation family: A new syndrome?
โ Scribed by Stalker, Heather J.; Zori, Roberto T.
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 37 KB
- Volume
- 73
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19971219)73:3<247::aid-ajmg3>3.0.co;2-p
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โฆ Synopsis
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 anomalies which are not present in this family. To our knowledge, there are no reports of similar conditions in the literature. The transmission through 5 generations and the presence of male-to-male transmission are consistent with autosomal-dominant transmission of a trait with variable expressivity.
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