We report on a brother and a sister with congenital nystagmus, cone-rod dysfunction, high myopia, and aplasia cutis congenita on the midline of the scalp vertex. To our knowledge this familial oculocutaneous condition, transmitted as an autosomal recessive trait, has not been reported previously.
✦ LIBER ✦
Autosomal-recessive aplasia cutis congenita—report of two affected sibs
✍ Scribed by Toriello, Helga V. ;Higgins, James V. ;Waterman, Donald F. ;Opitz, John M.
- Publisher
- John Wiley and Sons
- Year
- 1983
- Tongue
- English
- Weight
- 197 KB
- Volume
- 15
- Category
- Article
- ISSN
- 0148-7299
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The simultaneous appearance of epidermolysis bullosa and pyloric atresia (EB-PA) is recognized as an autosomal recessive disease; however, the coappearance of EB-PA and aplasia cutis congenita (ACC) has not been delineated as a defined entity. The aim of this study was to analyze clinically and hist