Showing 1 - 8 of 8 results filtered by
Causes microencephalic macrocephaly in neonates and acute damage to the basal ganglia (striatum and putamen) causing severe dystonia and episodes of encephalopathy .
The skin may also show hypertrichosis and excessive Mongolian spots. [ 6 ] Other features Macrocephaly - common with a short trunk length compared to the extremities. Sho...
Lysine - glutaric aciduria type 1: Affected infants may have normal development up to 2 years of age. Macrocephaly is common. Symptoms of hypotonia, choreoathetosis, seizures and ...
Children aged under 4 years with intracranial tumours: Macrocephaly, nausea and vomiting, irritability and lethargy. Children under the age of 2 years tend to have nonspecific present...
Autosomal recessive osteopetrosis Autosomal dominant osteopetrosis-1 is caused by heterozygous mutation in the LRP5 gene on chromosome 11q13. [ 5 ] Autosomal dominant osteopetrosis-2 (accou...
Other: mental status change, increased intracranial pressure, headache, acute neurological deficits, congenital lesions (eg, craniosynostosis, macrocephaly, and microcephaly), evaluation of...
There may be macrocephaly and choroidal haemangiomata. Focal tonic-clonic seizures typically appear in the first year on the opposite side to the naevus.
The following are also considered to be risk factors for thyroid cancer: Cowden's syndrome (macrocephaly, mild learning difficulties, carpet-pile tongue, with benign or malignant br...