Familial Pfeiffer Syndrome: Variable Manifestations and Role of Multidisciplinary Team Care

Pfeiffer syndrome is one of the autosomal dominant craniofacial syndromes. Classical clinical manifestations are coronal suture synostosis causing brachycephaly, midface retrusion, airway compromise, broad thumbs, and toes. Pfeiffer syndrome type I (classic type) is associated with FGFR1 mutation. H...

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Veröffentlicht in:	The Cleft palate-craniofacial journal 2022-06, Vol.59 (6), p.817-820
Hauptverfasser:	Chaisrisawadisuk, Sarut, Moore, Mark H
Format:	Artikel
Sprache:	eng
Schlagworte:	Acrocephalosyndactylia - genetics Acrocephalosyndactylia - therapy Birth defects Craniosynostoses - complications Craniosynostoses - genetics Craniosynostoses - therapy Generations Genetic disorders Humans Mutation Patient Care Team Skull
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