Toriello-Carey syndrome was described in 1988. Czarnecki et al. reviewed the cases published in 1996. They point out an unbalanced sex ratio. We report on another male case reinforcing their hypothesis of an X-linked or sex-influenced gene. Our patient was born to a 25-year-old primigravid woman at
Toriello-Carey syndrome: Delineation and review
β Scribed by Toriello, Helga V. ;Carey, John C. ;Addor, Marie-Claude ;Allen, William ;Burke, Leah ;Chun, Nicole ;Dobyns, William ;Elias, Ellen ;Gallagher, Renata ;Hordijk, Roel ;Hoyme, Gene ;Irons, Mira ;Jewett, Tamison ;LeMerrer, Martine ;Lubinsky, Mark ;Martin, Rick ;McDonald-McGinn, Donna ;Neumann, Luitgard ;Newman, William ;Pauli, Richard ;Seaver, Laurie ;Tsai, Anna ;Wargowsky, David ;Williams, Marc ;Zackai, Elaine
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 233 KB
- Volume
- 123A
- Category
- Article
- ISSN
- 0148-7299
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Toriello-Carey syndrome comprises agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, Robin sequence, abnormally shaped ears, cardiac defect, and hypotonia. We describe two Japanese sisters with a Toriello-Carey syndrome whose phenotypes were as
We describe findings in a Japanese boy, an autopsy case of Toriello-Carey syndrome with endocardial fibroelastosis. The patient, a boy, was the only child of a 25-year-old primigravid mother and a nonconsanguineous 33-yearold father. The pregnancy was complicated by threatened miscarriage at 8 week