Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe the ocular findings in eight patients with congenital myotonic dystrophy in the newborn period. While three infants had normal findings, five infants had evidence of persistent tunica vasculosa lentis (TVL) at gestational ages ranging from 34 to 40 weeks. Atrophy of vessels on the anterior lens capsule is normally complete by 34 weeks gestation and its persistence should suggest congenital infection or congenital myotonic dystrophy. Diagnosis of myotonic dystrophy has serious implications for the baby and the mother, in whom the condition may have not been recognized earlier.
J Pediatr Ophthalmol Strabismus
PMID:Persistent tunica vasculosa lentis as a sign of congenital myotonic dystrophy. 771 2

A 3-year-old girl presented with a right upper eyelid mass. The lesion had a reddish appearance, was firm to palpation, and was fixed to underlying tissues. Fourteen months after the lesion was excised, a similar lesion was discovered on the left side of the nose and was also excised. Histopathologic examination of the excised tumors revealed variable basophilic hair matrix cells and sheets of nonviable eosinophilic shadow cells. Foci of dystrophic calcification were also seen in the necrotic tumor areas. The histopathologic findings were found to be consistent with pilomatrixoma. Results of limited clinical work-up of the child for Gardner's syndrome, sarcoidosis, and myotonic dystrophy were negative. Multiple periocular and facial pilomatrixomas can occur in children in the clinical absence of myotonic dystrophy, Gardner's syndrome, and sarcoidosis.
J Pediatr Ophthalmol Strabismus
PMID:Multiple pilomatrixomas affecting the eyelid and face. 1840 63