Hypertrichosis, pigmentary retinopathy, and facial anomalies: A new syndrome?

Autor:	T. C. Teather, K. Hashimoto, Paula R. Martens, Eniko K. Pivnick, R. S. Wilroy
Rok vydání:	1996
Předmět:	Hypertrichosis Hyperpigmented streaks medicine.medical_specialty Dolichocephaly business.industry Eye disease Pigmentary Retinopathy medicine.disease Hyperpigmentation Dermatology medicine.anatomical_structure medicine Buttocks Congenital hypertrichosis medicine.symptom business Genetics (clinical)
Zdroj:	American Journal of Medical Genetics. 62:386-390
ISSN:	1096-8628 0148-7299
DOI:	10.1002/(sici)1096-8628(19960424)62:4<386::aid-ajmg11>3.0.co;2-k
Popis:	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.
Databáze:	OpenAIRE
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