Lin‐Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders

We report two patients with sagittal craniosynostosis, hypoplastic male genitalia, agenesis of the corpus callosum, thyroid abnormalities, and dysmorphic features which include short palpebral fissures and retrognathia. The clinical presentation of both patients was initially thought to be suggestiv...

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Veröffentlicht in:	American journal of medical genetics. Part A 2017-10, Vol.173 (10), p.2596-2604
Hauptverfasser:	Bashir, Rani A., Dixit, Abhijit, Goedhart, Caitlin, Parboosingh, Jillian S., Innes, Allan M., Ferreira, Patrick, Hasan, Shabih U., Au, Ping‐Yee B.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult arthrogryposis blepharophimosis congenital hypothyroidism Corpus callosum Cranial sutures craniofacial abnormalities craniosynostoses Craniosynostoses - genetics Craniosynostoses - pathology Craniosynostosis Differences of sex development disorders of sex development genetic disease, inborn Genitalia genitopatellar histone acetyltransferases Histone Acetyltransferases - genetics Humans Infant Infant, Newborn Lin‐Gettig Male multiple abnormalities Mutation Ohdo Patients Phenotype polyhydramnios Say‐Barber‐Biesecker‐Young‐Simpson Syndrome Thyroid
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