Craniosynostosis associated with intracranial calcification: A novel recessive syndrome

Clinical Dysmorphology

Volumn 12, Issue 4, 2003, Pages 215-220

  Longman, Cheryl ^a,c   Whiteford, Margo ^a   Koppel, David ^b   Donaldson, Malcolm ^a   Paterson, Wendy ^a   Tolmie, John ^a  

^a ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^b CANNIESBURN PLASTIC SURGERY UNIT   (United Kingdom)

^c NHS GREATER GLASGOW AND CLYDE   (United Kingdom)

Author keywords

Autosomal recessive; Craniosynostosis; Intracranial calcification

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BASAL GANGLION; BRAIN CALCIFICATION; CASE REPORT; CONSANGUINEOUS MARRIAGE; CRANIOFACIAL SYNOSTOSIS; FACE DYSMORPHIA; FEMALE; HUMAN; INTELLIGENCE; MALE; PHENOTYPE; PRIORITY JOURNAL; SIBLING;

ADULT; BASAL GANGLIA; CALCINOSIS; CHILD; CRANIOSYNOSTOSES; FACE; FAMILY HEALTH; FEMALE; GENES, RECESSIVE; HUMANS; MALE; SIBLINGS; TOMOGRAPHY, X-RAY COMPUTED;

EID: 0142107424     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200310000-00001     Document Type: Article

References (7)

1. Chitayat D, McGillivray BC, Rothstein R, Flodmark O, Priddy RW, Ebelt VJ, et al. (1990). Familial renal hypophosphatasia ,minor facial anomalies, intracerebral calcifications, and non-rachitic bone changes: apparently new syndrome? Am J Med Genet 35:406-414.
2. Lajeunie E, Le Merrer M, Bonati-Pellie C, Marchae D, Renier D (1995). Genetic study of nonsyndromic coronal craniosynostosis. Am J Med Genet 55: 500-504.
3. Lewanda AF, Jabs EW (2002). Craniosynostosis. In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR (editors): Principles and practice of medical genetics, 4th edn. New York: Churchill Livingstone; pp. 3673-3688.
4. Pierquin G, Seligmann R, Van Regemortor N (1992). Familial occurrence of Summit syndrome or a variant example of Carpenter syndrome? Genet Couns 3:101-105.
5. Tanner JM, Whitehouse RH, Cameron N, Marshall WA, Healy MJR, Goldstein H (1983). Assessment of skeletal maturity and prediction of adult height (TW2 method), 2nd edn. London: Academic Press.
6. Wilkie AOM (1997). Craniosynostosis: genes and mechanisms. Hum Molec Genet 6:1647-1656.
7. Winter RM, Baraitser M (2003). London Dysmorphology Database v1.0. Bushey, UK: London Medical Databases.