Isolated tibial hemimelia in sibs: An autosomal-recessive disorder?
โ Scribed by McKay, Marian ;Clarren, Sterling K. ;Zorn, Richard ;Opitz, John M.
- Book ID
- 101444318
- Publisher
- John Wiley and Sons
- Year
- 1984
- Tongue
- English
- Weight
- 305 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0148-7299
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๐ SIMILAR VOLUMES
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.
We identified a Canadian-Mennonite family in which a brother and sister have hydrocephalus due to obstruction at the foramen of Monro and profound bilateral sensorineural deafness. This appears to be a unique combination of anomalies and, to our knowledge, has not been reported previously. Both pare