Brief Clinical Report
Hypertrichosis, pigmentary retinopathy, and facial anomalies: A new syndrome?
Article first published online: 6 DEC 1998
Copyright © 1996 Wiley-Liss, Inc.
American Journal of Medical Genetics
Volume 62, Issue 4, pages 386–390, 24 April 1996
How to Cite
Pivnick, E. K., Wilroy, R. S., Martens, P. R., Teather, T. C. and Hashimoto, K. (1996), Hypertrichosis, pigmentary retinopathy, and facial anomalies: A new syndrome?. Am. J. Med. Genet., 62: 386–390. doi: 10.1002/(SICI)1096-8628(19960424)62:4<386::AID-AJMG11>3.0.CO;2-K
- Issue published online: 6 DEC 1998
- Article first published online: 6 DEC 1998
- Manuscript Revised: 27 OCT 1995
- Manuscript Received: 13 APR 1995
- congenital hypertrichosis;
- pigmentary retinopathy;
- facial dysmorphia
We report on a 22-month-old male with congenital hypertrichosis of the face, arms, legs, shoulders, back, and buttocks, abnormal facial appearance, dolichocephaly, and pigmentary retinopathy. Symmetrical hyperpigmentation is present on the sideburn areas of his face, and hyperpigmented streaks are seen on arms and legs. Biopsy of the hyperpigmented skin showed many separate bundles of smooth muscles in the dermis. No relative had hypertrichosis or other birth defects. To our knowledge, the syndrome of facial anomalies, pigmentary retinopathy, and congenital hypertrichosis has not been reported previously. © 1996 Wiley-Liss, Inc.