Trigonocephaly: a new familial syndrome

Area of Science:

• Genetics
• Pediatrics
• Neurology

Background:

• Trigonocephaly, a premature fusion of the metopic suture, can be associated with various syndromes and neurodevelopmental issues.
• Understanding the genetic basis and phenotypic variability of isolated trigonocephaly is crucial for accurate diagnosis and genetic counseling.

Observation:

• A family spanning three generations exhibited trigonocephaly, with six affected individuals.
• The propositus presented with trigonocephaly, omphalocele, and minor ear, vertebral, and genital anomalies.
• Affected father had mild microcephaly and minor eye abnormalities; other relatives had isolated trigonocephaly.

Findings:

• Trigonocephaly in this family follows an autosomal dominant inheritance pattern.
• A male-to-female ratio of 5:1 was observed, suggesting potential sex limitation or variable expressivity.
• The condition was characterized by isolated metopic craniosynostosis without significant functional brain abnormalities.

Implications:

• This case highlights a unique syndrome where trigonocephaly occurs without associated brain dysfunction.
• The findings contribute to the understanding of genetic heterogeneity and phenotypic spectrum of craniosynostosis disorders.
• Further research may elucidate the specific genetic factors influencing isolated trigonocephaly and its inheritance patterns.