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 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

Several reports of idiopathic hypercalcemia of childhood have been published since Lightwood in 1932 described dwarfism associated with mental retardation, strabismus, hypercalcemia, nephrocalcinosis and osteosclerosis. The present paper adds two new cases. The first patient was 15 months old when first seen with stunted physical and mental growth, a systolic murmur, and a serum calcium value of 13 mg. %. This child suffered several severe infections and in spite of a low calcium intake and the administration of chelating agents her blood calcium rose until death six months later. The other patient, three years old, also had delayed physical and mental development, typical facies, a systolic murmur, skeletal lesions, and nephrocalcinosis. Varied therapeutic attempts failed.Idiopathic hypercalcemia of childhood is reviewed in the light of the 94 reports already published.
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PMID:[IDIOPATHIC HYPERCALCEMIA IN THE CHILD: 2 NEW CASES AND REVIEW OF THE LITERATURE]. 1407 28