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Macrocephaly is the condition of having an abnormally large head, including the scalp, cranial bone, and intracranial content. The most common type is benign familial macrocephaly, but the condition also is associated with chromosomal anomalies and various phenotypic syndromes. Two recent papers highlight the importance of genetic evaluation when macrocephaly is documented.
In the first paper, researchers report that microdeletions and microduplications in chromosomal locus 1q21.1 produce opposite syndromes — microcephaly and macrocephaly, respectively — and that both syndromes are associated with developmental and behavioral abnormalities. A paralog of the HYDIN gene, which is associated with autosomal recessive hydrocephaly, is located in …