Paula and Bobby
Parents of Lillie
Chitayat (1992) osteosclerosis- intracranial calcifications- optic atrophy
What is Chitayat (1992) osteosclerosis- intracranial calcifications- optic atrophy?
Chitayat (1992) osteosclerosis- intracranial calcifications- optic atrophy is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Chitayat et al., (1992) reported a 2 1/2-year-old girl with severe retardation, optic atrophy and deafness. Radiographs revealed overmodelling of the diaphyses of the long bones with widening of the metaphyses, sclerosis of the scapulae and ribs, sclerosis of the skull base, a small sella turcica, and an obtuse mandibular angle. A brain CT scan showed intracerebral calcification, predominantly of the white matter. The skin over the palms was described as orange; over the dorsum of the hands it was wrinkled. The authors felt that the radiological changes in the long bones were consistent with dysosteosclerosis.
* This information is courtesy of the L M D.
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What gene changes cause Chitayat (1992) osteosclerosis- intracranial calcifications- optic atrophy?
The syndrome is inherited in the following inheritance pattern/s:
Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Chitayat (1992) osteosclerosis- intracranial calcifications- optic atrophy?
The typical symptoms of the syndrome are:
How does someone get tested for Chitayat (1992) osteosclerosis- intracranial calcifications- optic atrophy?
The initial testing for Chitayat (1992) osteosclerosis- intracranial calcifications- optic atrophy can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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