COLLOIDON BABY WITH OPHTHALMIC INVOLVEMENT
Autor: | Shrinivas M. Ganagi, Abijeeth Abijeeth, Sarita Gosalve S, Vishnu Prabhu |
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Rok vydání: | 2014 |
Předmět: | |
Zdroj: | Journal of Evolution of Medical and Dental Sciences. 3:15184-15186 |
ISSN: | 2278-4802 2278-4748 |
DOI: | 10.14260/jemds/2014/4040 |
Popis: | etc account for 15% of the cases.2 Lamellar ichthyosis which is more common, is an autosomal recessive condition caused by mutations in the transglutaminase-1 gene, defect on chromosome 14q11.Lid ectropion and ocular complications like exposure keratitis are seen commonly in colloidon babies. 3 15 day old male baby, first issue of a second degree consanguineously married couple, born at a gestation age of 36 weeks (normal vaginal delivery) was referred to ophthalmic institute for management of ectropion. Child was diagnosed to have lamellar ichthyosis at the paediatric referral institute. At birth baby weighed 2500 grams, length 48 cm, head circumference of 34 cm. |
Databáze: | OpenAIRE |
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