PEDIATRICS Vol. 40 No. 1 July 1967, pp. 63-68
This Article
Right arrow Full Text (PDF)
Right arrow P3Rs: Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when P3Rs are posted
Right arrow Alert me if a correction is posted
Services
Right arrow E-mail this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My File Cabinet
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via CrossRef
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Mandell, F.
Right arrow Articles by Hirschhorn, K.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Mandell, F.
Right arrow Articles by Hirschhorn, K.

ORAL-FACIAL-DIGITAL SYNDROME IN A CHROMOSOMALLY NORMAL MALE

Frederick Mandell M.D.1, Pearay L. Ogra M.B.B.S.1, Sidney L. Horowitz D.D.S.1, and Kurt Hirschhorn M.D.1

1 Departments of Pediatrics and Medicine, and Institute of Reconstructive and Plastic Surgery, New York University Medical Center, New York, New York

Oral-facial-digital syndrome has been described almost exclusively in females. The few males that have been reported with classical features of the syndrome have had abnormal karyotypes. A 20-month-old, living, male child with characteristic clinical features of oral-facial-digital syndrome is described. This child has a normal chromosome complement of 46 with an XY sex chromosome constitution. It is suggested that the survival of this child represents the extreme of the variability of expressivity in this syndrome.

Submitted on September 9, 1966
Accepted on January 26, 1967