2016, Number 4
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Rev Cub Oftal 2016; 29 (4)
Goltz's syndrome
Sibello DS, Méndez ST, Naranjo FRM, Estévez MY, Escobar RG
Language: Spanish
References: 14
Page: 735-740
PDF size: 87.53 Kb.
ABSTRACT
Goltz syndrome or focal dermal hypoplasia is a rare multisystemic disorder involving
the skin, the musculoskeletal system, the eyes, the hair, the nails and the kidney
among others, with considerable variation in clinical features. The ophthalmological
examination of the case presented in this paper shows a girl who has microphthalmia
in the left eye, nasolacrimal duct obstruction in the right eye and coloboma of the iris
and optic nerve in the microphthalmic eye in addition to sensory esotropia. The
diagnosis was confirmed by genetic studies and it was focal dermal hypoplasia, which
is a rare disease but we should learn about it to be able to identify it if some patient
with the disease goes to our service.
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