Macrocephaly Syndromes
نویسندگان
چکیده
MACROCEPHALY SYNDROMES Charles A. Williams, MD INTRODUCTION Macrocephaly is defined as a head circumference which is greater than 2 standard deviations larger than the average for a given age and sex. It refers to an abnormally large head inclusive of the scalp, cranial bone and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain) or due to other conditions such as hydrocephalus or cranial thickening, and is a common reason for referral to genetics clinic. Genetics databases list 164 conditions, including 17 metabolic disorders, associated with macrocephaly.
منابع مشابه
Correlation of skeletal muscle biopsy with phenotype in the familial macrocephaly syndromes.
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Mutations of the PTEN gene are associated with hamartoma-neoplasia syndromes. While germline mutations at this chromosome 10q22-23 locus have been observed in patients with Cowden syndrome (CS) and Bannayan-RileyRuvalcaba syndrome (BRR), both of which phenotypes are associated with hamartomata and neoplasia, somatic mutation of PTEN has been established in a wide variety of sporadically occurri...
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