Benign familial macrocephaly in a mother-son pair

Area of Science:

• Genetics and Neurology
• Pediatric Neurology

Background:

• Benign Familial Macrocephaly (BFM) is a primary form of macrocephaly.
• Its inheritance pattern is proposed as autosomal dominant or multifactorial.

Observation:

• Two cases of BFM are presented: a boy and his mother.
• The boy exhibited macrocephaly, dolicocephaly, frontal bossing, narrow biparietal diameter, and a square face.
• Initial CT scans revealed extracerebral fluid collection and increased subarachnoid space, which resolved by age 3.

Findings:

• The mother presented with macrocephaly, dolicocephaly, and a dished-out mid-face.
• The family demonstrated the full clinical spectrum of Benign Familial Macrocephaly.
• Autosomal dominant inheritance was confirmed in this family.

Implications:

• This report reinforces the understanding of BFM's clinical presentation.
• It provides evidence for autosomal dominant inheritance in Benign Familial Macrocephaly.
• Further research into the genetic basis of BFM is warranted.