We read with interest the article of describing presumably a new Seckel-like syndrome of primordial dwarfism in two unrelated children. The syndrome comprises IUGR with post-natal growth retardation, microcephaly, retarded bone age, prominent eyes, microtia and ear malformations, small mouth with f
Vertebral and eye anomalies, cutis aplasia, and short stature (VECS): A new syndrome?
โ Scribed by Prasad, C.; Connolly-Wilson, M.; Rosales, T.O.
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 23 KB
- Volume
- 77
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19980518)77:3<225::aid-ajmg7>3.0.co;2-o
No coin nor oath required. For personal study only.
โฆ Synopsis
We report on a 6-year-old girl with short stature, facial anomalies, cutis aplasia, nasolacrimal duct obstruction, megalocorneae, kyphoscoliosis with multiple segmentation defects of the thoracic vertebrae, and 11 pairs of ribs. These anomalies together may represent a newly recognized syndrome.
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We report on 2 brothers with short stature, microcephaly, myopia, retarded osseous maturation, severe developmental delay, and minor anomalies including temporal narrowing, periorbital fullness, full cheeks in infancy, and protruding lower lip. Both brothers and their parents had normal chromosomes.
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We describe a previously unrecognized syndrome in two unrelated patients with congenital cataracts, sensorineural deafness, distinctive facial appearance, skeletal changes, postnatal short stature, and mental retardation.
**Enter the sublime, upside-down / inside-out world of William H. Gass . . . in this case where the *Eyes* have it every which way, including up . . . in a dazzling new collection of novellas and stories (six in all) from one of the most revered writers of our time, author of sixteen books, among th