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)

A case of congenital strabismus fixus divergens is described. Other anomalies were vertically oval corneas, high mixed astigmatism, amblyopia, horizontal nystagmus, microcephaly, maxillary hypoplasia, micrognathia, low set large ears, and hyperostosis frontalis interna.
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PMID:Strabismus fixus divergens and associated craniofacial anomalies. 107 37

We experienced two cases of "Osteosclerosis" who were 12 and 15 year old sisters. Previous reported cases of this disease are 50 cases and among them only one patient was reported in Japan. Osteosclerosis seems to be inherited as an autosomal recessive trait. Parental consanguinity is also observed. The peculiar facies are evident in infancy, characterized by broad, flat nasal bridge, ocular hypertelorism and prognathic, broadened mandible. Commonly, they have cutaneous syndactylies in bilateral hands and feet, especially between the second and third finger and toe. Roentgenographically, hyperostosis with osteosclerosis can be observed in systemic bones, particularly the calvarium is greatly thickened. Since such a bony change occurs most severely at the base of the skull, important clinical symptoms of this disease are cranial nerve palsies resulting from obliterations of unilateral or bilateral several cranial nerve foramina. In many cases deafness due to progressive encroachment upon the middle ear cavities and auditory nerve canals appears early in infancy. Transient palsy of the facial nerve occurs somewhat later, and bilateral facial paralyses are usually permanent in adulthood. In some cases optic atrophy and visual field defect due to compression of the optic nerves are late complications. Other ocular symptoms are strabismus, nystagmus and exophthalmos. Anosmia and trigeminal nerve palsy are less common. Lower cranial nerve symptoms can not be noted but the reason is unclear. Chronic headache, convulsion and mental retardation are occasionally present. They are considered as a result from increased intracranial pressure due to progressive diminution of the cranial capacity. By same mechanism, several patients have died suddenly from impaction of the medulla oblongata in the foramen magnum in early adulthood. Then, some reporter puts emphasis on prophylactic opening of the foramen magnum in all adult cases.
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PMID:[Sibling case of osteosclerosis with cranial nerve symptoms]. 629 11

Meningiomas arising from the optic nerve or secondarily invading the orbit from the intracranial cavity are uncommonly encountered in children. Ectopic (extradural) meningiomas are exceedingly rare orbital tumors that do not originate from either the optic nerve or the intracranial meninges. We evaluated and treated two boys aged 7 and 10 years with probable primary ectopic (extradural) orbital meningiomas. Both patients presented with a gradual onset of progressive, painless proptosis. In addition, computed tomographic scans demonstrated involvement of the superomedial orbit without bony erosion or hyperostosis, but with expansion of the adjacent sinus. Neither tumor demonstrated attachment to the optic nerve or intracranial extension at the time of surgery. Both patients were successfully treated with complete surgical excision. Evaluation did not reveal the presence of neurofibromatosis in either child.
J Pediatr Ophthalmol Strabismus
PMID:Ectopic (extradural) meningioma of the orbit: a report of two cases in children. 845 26