Cover Image, Volume 173A, Number 10, October 2017

Area of Science:

• Genetics
• Pediatric Medicine
• Medical Imaging

Background:

• Lin-Gettig syndrome is a rare genetic disorder with variable clinical manifestations.
• KAT6B gene mutations are implicated in a spectrum of developmental disorders.
• Craniosynostosis, the premature fusion of skull bones, is a significant congenital anomaly.

Purpose of the Study:

• To investigate the potential association between Lin-Gettig syndrome and craniosynostosis.
• To expand the phenotypic spectrum of KAT6B-related disorders.
• To enhance the diagnostic criteria for genetic conditions involving KAT6B.

Main Methods:

• Review of clinical cases with suspected Lin-Gettig syndrome.
• Genetic analysis to identify mutations in the KAT6B gene.
• Radiological assessment, including computed tomography (CT) scans, to evaluate for craniosynostosis.

Main Results:

• Identification of craniosynostosis as a presenting feature in individuals with Lin-Gettig syndrome.
• Confirmation of KAT6B gene mutations in affected patients.
• Demonstration that craniosynostosis expands the known clinical spectrum of KAT6B-related disorders.

Conclusions:

• Craniosynostosis should be considered in the clinical evaluation of patients with Lin-Gettig syndrome.
• The findings broaden the understanding of KAT6B-related disorders.
• This expanded spectrum aids in more comprehensive genetic diagnosis and counseling.