Craniosynostosis: a previously unreported association with CHST3-related skeletal dysplasia (autosomal recessive Larsen syndrome).

Clinical Genetics, Sheffield Children’s Hospital, Western Bank, Sheffield, Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Department of Radiology, Leeds General Infirmary, Department of Neurosurgery, Leeds Teaching Hospitals NHS Trust, Leeds, Clinical Genetics Unit, Birmingham Women’s Hospital, Birmingham, UK and Diagenos, Center for Medical Genetics, Caprivistrasse 30, Osnabrueck, Germany Correspondence to Claire Searle, Clinical Genetics, Sheffield Children’s Hospital, Western Bank, Sheffield S10 2TH, UK Tel: + 44 114 271 7027; fax: + 44 114 2737467; e-mail: cjs29@doctors.org.uk

[1]  G Iannetti,et al.  Evaluation and management of nonsyndromic craniosynostosis , 2011, Acta paediatrica.

[2]  E. Jabs,et al.  Genetic basis of potential therapeutic strategies for craniosynostosis , 2010, American journal of medical genetics. Part A.

[3]  D. Sillence,et al.  Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features , 2010, American journal of medical genetics. Part A.

[4]  S. Mundlos,et al.  Omani‐type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3 , 2009, Clinical genetics.

[5]  S. Robertson,et al.  Spondyloepiphyseal dysplasia, Omani type: Further definition of the phenotype , 2008, American journal of medical genetics. Part A.

[6]  L. Sangiorgi,et al.  Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. , 2008, American journal of human genetics.

[7]  S. Robertson,et al.  A molecular and clinical study of Larsen syndrome caused by mutations in FLNB , 2006, Journal of Medical Genetics.

[8]  S. Mundlos,et al.  Spondyloepiphyseal dysplasia omani type: A new recessive type of SED with progressive spinal involvement , 2004, American journal of medical genetics. Part A.

[9]  B. Hall Humero-spinal dysostosis: report of the fourth case with emphasis on generalized skeletal involvement, abnormal craniofacial features, and mitral valve thickening. , 1997, Journal of pediatric orthopedics. Part B.