Hardikar syndrome: A new syndrome with c
β Cools, F.; Jaeken, J.
π Article
π
1997
π John Wiley and Sons
π English
β 9 KB
π 2 views
β¦ LIBER β¦
Hypertrichosis, pigmentary retinopathy, and facial anomalies: A new syndrome?
β Scribed by Pivnick, E. K.; Wilroy, R. S.; Martens, P. R.; Teather, T. C.; Hashimoto, K.
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 36 KB
- Volume
- 62
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19960424)62:4<386::aid-ajmg11>3.0.co;2-k
No coin nor oath required. For personal study only.
β¦ Synopsis
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 syn- drome of facial anomalies, pigmentary retinopathy, and congenital hypertrichosis has not been reported previously.
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