Five individuals in one family, including dizygotic male twins, a half brother and their mother, had Aarskog syndrome (AS). Phenotypic variability is wide not only between mother and sons but also between sibs. Collectively, the affected relatives have the full spectrum of findings seen in AS. Based
✦ LIBER ✦
Progressive hemifacial atrophy (Parry-Romberg syndrome) report with review of genetics and nosology
✍ Scribed by Lewkonia, R. M. ;Lowry, R. B. ;Opitz, John M.
- Publisher
- John Wiley and Sons
- Year
- 1983
- Tongue
- English
- Weight
- 403 KB
- Volume
- 14
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
✦ Synopsis
Abstract
We describe a boy with mild hemifacial atrophy (Parry‐Romberg syndrome); he had localized scleroderma on a leg and his trunk, and antinuclear antibodies in his serum. These findings support suggestions that this disorder could be a variant of localized scleroderma rather than a developmental anomaly or dysplasia. A review of the literature does not support assertions of autosomal dominant inheritance of the condition.
📜 SIMILAR VOLUMES
Aarskog syndrome: Report of a family wit
✍
Teebi, Ahmad S. ;Rucquoi, J. K. ;Meyn, M. S.
📂
Article
📅
1993
🏛
John Wiley and Sons
🌐
English
⚖ 917 KB