title: Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure.
abstract: BACKGROUND
  Frank-ter Haar syndrome is a rare disorder associated with skeletal, cardiac, ocular and craniofacial features including hypertelorism and brachycephaly. The most common underlying genetic defect in Frank-ter Haar syndrome appears to be a mutation in the SH3PXD2B gene on chromosome 5q35.1. Craniosynostosis, or premature fusion of the calvarial sutures, has not previously been described in Frank-ter Haar syndrome.
  
  
  METHODS
  We present a family of three affected siblings born to consanguineous parents with clinical features in keeping with a diagnosis of Frank-ter Haar syndrome. All three siblings have a novel mutation caused by the deletion of exon 13 of the SH3PXD2B gene. Two of the three siblings also have non-scaphocephalic sagittal synostosis associated with raised intracranial pressure.
  
  
  CONCLUSIONS
  The clinical features of craniosynostosis and raised intracranial pressure in this family with a confirmed diagnosis of Frank-ter Haar syndrome expand the clinical spectrum of the disease. The abnormal cranial proportions in a mouse model of the disease suggests that the association is not coincidental. The possibility of craniosynostosis should be considered in individuals with a suspected diagnosis of Frank-ter Haar syndrome.
authors.affiliation: Oxford Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK.
authors.forename: Charlotte L
authors.initials: CL
authors.lastname: Bendon
authors.forename: Aimée L
authors.initials: AL
authors.lastname: Fenwick
authors.forename: Jane A
authors.initials: JA
authors.lastname: Hurst
authors.forename: Gudrun
authors.initials: G
authors.lastname: Nürnberg
authors.forename: Peter
authors.initials: P
authors.lastname: Nürnberg
authors.forename: Steven A
authors.initials: SA
authors.lastname: Wall
authors.forename: Andrew O M
authors.initials: AO
authors.lastname: Wilkie
authors.forename: David
authors.initials: D
authors.lastname: Johnson
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D003398:Craniosynostoses / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D002658:Developmental Disabilities / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D006801:Humans; D007427:Intracranial Pressure; D008297:Male; D009154:Mutation; D010009:Osteochondrodysplasias / Q000151:congenital* / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D010375:Pedigree
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C547814:SH3PXD2B protein, human