We report on a 7 %-year-old boy with macrocephaly, hamartomatous intestinal polyps, and caft5-au-lait spots on the penis. These abnormalities were reported in two other individuals thought to have the Sotos syndrome. We think that this triad of abnormalities represents a new disorder, the Ruvalcaba-
Ruvalcaba syndrome: Autosomal dominant inheritance
โ Scribed by Sugio, Yoshitsugu ;Kajii, Tadashi
- Publisher
- John Wiley and Sons
- Year
- 1984
- Tongue
- English
- Weight
- 701 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Previous familial cases of recurrent heterotaxia have suggested an autosomal recessive or exceptionally X-linked or dominant inheritance. Here, we report six families including 18 affected members, consistent with autosomal dominant inheritance. Among these, four families have more than one case of
We report on a mother-to-son transmission of the Barber-Say syndrome, a finding that strongly supports dominant inheritance of this rare disorder. The characteristic facial changes, small ears, hirsutism, and redundant skin of our patients are consistent with the findings of five reported cases. The