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Lin-Gettig syndrome
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A few reported cases only. Association of a sagittal craniosynostosis with agenesis of the corpus callosum, thyroid abnormalities and hypoplasia of the external genitalia. Intestinal malformations may also be present. Caused by mutations in the KAT6B gene (10q22.2), that can also produce the genitopatellar syndrome or the Bisecker-Barber-Say syndrome (see these terms): these three syndromes could therefore be part of a common spectrum of anomalies.
Anesthetic implications:
management of a craniosynostosis; check the thyroid function; risk of difficult intubation
References :
- Bashir RA, Dixit A, Goedhart C et al. Lin-Gettig syndrome:
craniosynostosis expands the spectrum of the KAT6B related disorders.
Am J Med Genet 2017; 173A: 2596-604
Update: November 2017