Ablepheron Macrostomia Syndrome
- 1 October 1977
- journal article
- research article
- Published by Wiley in Developmental Medicine and Child Neurology
- Vol. 19 (5) , 659-663
- https://doi.org/10.1111/j.1469-8749.1977.tb07999.x
Abstract
Two male children are reported with similar clinical features, including absent eyelids, eyebrows, eyelashes and hair, fusion defects of the mouth, expressionless facies, rudimentary external ears (but normal hearing), ambiguous genitalia, absent or rudimentary nipples, course dry skin and redundant skin folds and delayed expressive language development. The relationship of this syndrome to previously reported cryptophthalmos syndromes is discussed.This publication has 6 references indexed in Scilit:
- Cryptophthalmos in Two Families from Bahia, BrazilJournal of Medical Genetics, 1973
- Multiple Congenital Abnormalities Associated With CryptophthalmiaArchives of Ophthalmology (1950), 1969
- Malformative Syndrome with CryptophthalmosActa geneticae medicae et gemellologiae, 1969
- CRYPTOPHTHALMOSBritish Journal of Ophthalmology, 1962
- Our genetical ‘load’. A review of some aspects of genetical variationAnnals of Human Genetics, 1962
- Report of a Case of CryptophthalmiaAmerican Journal of Ophthalmology, 1920