Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Alcohol is the most frequent and most important teratogenic agent causing mental and physical retardation in childhood. The alcohol fetal syndrome is characterized by pre- and postnatal growth retardation, hypotonia, hyperactivity, microcephalus, mental retardation and typical craniofacial malformations. The latter includes short palpebral fissures, a poorly developed philtrum, thin upper lip vermillion, short mandibles, a flattened midface structure and dysplastic ears. Ophthalmological signs occur in 90% and include epicanthus, ptosis, myopia, optic nerve hypoplasia and tortuous retinal vessels. Microphthalmus, coloboma and Peters' anomaly have also been described. Five children with alcohol embryopathy are presented. The histopathological findings of the enucleated eye of a 6th child with alcohol embryopathy which was sent to us for examination and which revealed an anterior staphyloma with Peters' anomaly is also described. Ophthalmologists should be aware of alcohol in pregnancy as a preventable cause of eye malformation.
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PMID:[Eye manifestations of fetal alcohol syndrome]. 158 39

Ocular manifestations in two cases of congenital muscular dystrophy of Fukuyama type were reported. This disease is characterized by early onset of hypotonia, generalized muscle weakness and atrophy, mental retardation, and elevated serum creatine-phosphokinase activity. The symptoms include entropion of lower lids, pathological myopia with astigmatism, optic nerve pallor, and irregular grayish subretinal mottling. Case 1 showed additional features of posterior staphyloma, dragged papillomacular vessels, peripheral grayish-white discoloration of the retina, and rete mirabile as well as abnormal vascular anastomosis.
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PMID:Ocular manifestations of congenital muscular dystrophy (Fukuyama type). 665 Nov 32