Macrocephaly with hamartomas: Bannayan-Zonana syndrome

Area of Science:

• Genetics
• Pediatrics
• Dermatology

Background:

• Familial macrocephaly with mesodermal hamartomas is a rare genetic disorder.
• Characterized by specific physical and neurological manifestations.

Observation:

• Nine individuals from four families presented with symmetrical macrocephaly.
• Postnatal growth deceleration and mild neurological dysfunction were consistent.
• Mesodermal hamartomas, including lipomas and hemangiomas, were present in all affected individuals.

Findings:

• Speech and motor delays were common but often compensated by adulthood.
• Two patients had mild intellectual disability and seizures, possibly linked to hemorrhage.
• Other features included down-slanting palpebral fissures, high palate, joint hyperextensibility, pectus excavatum, and strabismus.

Implications:

• This syndrome, Bannayan-Zonana syndrome, is inherited in an autosomal-dominant pattern.
• Early identification and management are crucial for individuals with this condition.
• Further research can elucidate the genetic basis and long-term prognosis.