Genetic study of nonsyndromic coronal craniosynostosis

Wiley - Tập 55 Số 4 - Trang 500-504 - 1995
Elizabeth Lajeunie1, Martine Le Merrer2, Catherine Bonaïti‐Pellié3, Daniel Marchac4, Dominique Rénier4
1U 393 INSERM, Paris, France.
2U 393 INSERM, Hǒpital Necker Enfants‐Malades, Paris, France
3Hǒpital Necker Enfants‐Malades, and U 155 INSERM, Chateau de Langchamp, Paris, France
4Groupe d'Etude des Malformations Craniofaciales, service de Neurochirurgie, Hǒpital Necker Enfants‐Malades, Paris, France

Tóm tắt

AbstractFrom a series of 1265 individuals with different craniosynostoses hospitalized between 1976 and 1993, 260 probands with nonsyndromic unilateral (181) or bilateral (79) coronal synostosis were analysed. The prevalence of craniosynostoses was estimated as 1 in 2100 children. In the group of coronal synostosis, family history was obtained on 192 probands in 180 pedigrees. The male:female ratio was 1:2. The average paternal age was 32.7 ± 6.4 years, which is significantly higher than normal. In 26 of the 180 pedigrees, a high degree of familial aggregation was observed, giving a 14.4% figure of familial cases. The bicoronal synostoses were significantly more often familial than the unicoronal synostoses. Segregation analysis of these families leads to the conclusion that coronal synostosis is transmitted as a dominant disorder with 0.60 penetrance and 61% of sporadic cases. © 1995 Wiley‐Liss, Inc.

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Tài liệu tham khảo

10.3171/jns.1965.22.3.0229

Barrai I, 1965, Estimation of prevalence under incomplete selection, Am J Hum Genet, 17, 221

10.1111/j.1469-1809.1959.tb01728.x

Briard ML, 1975, Fréquence des malformations à la naissance. Etude d'une maternitè parisienne, Arch Fr Ped, 32, 123

10.1136/jmg.29.10.681

Chung CS, 1975, Factors affecting risks of congenital malformations. 1, Epidemiological analysis, 11, 1

Cohen MM, 1986, Craniosynostosis. Diagnostic, Evaluation, and Management

10.1002/ajmg.1320310514

10.1007/978-1-4471-1323-2_5

10.1111/j.1469-1809.1965.tb00500.x

10.1111/j.1469-1809.1947.tb02410.x

10.1136/bmj.2.5155.792

10.1111/j.1469-1809.1938.tb02179.x

10.1111/j.1469-1809.1947.tb02412.x

10.1002/tera.1420140209

10.1002/tera.1420150312

10.1016/0092-8674(93)90379-5

10.1007/BF00195827

Kurnit DM, 1987, Genetics, chance, and morphogenesis, Ann J Hum Genet, 41, 979

10.1159/000153231

Lalouel JM, 1983, A unified model for complex segregation analysis, Am J Hum Genet, 35, 816

Lammer EJ, 1987, Investigation of a suspected increased prevalence of craniosynostosis: Colorado, 1978–1982, Proc Greenwood Genet Ctr, 6, 126

Le Merrer M, 1988, Conseil génétique dans les craniosténoses. Bilan d'une étude prospective réaliséé avec le groupe d'études sur les malformations craniofaciales, J Génét Hum, 36, 295

Le Merrer M, 1990, A genetic study of craniosynostosis, Am J Hum Genet, 47, A65

Marchac D, 1982, Craniofacial Surgery for Craniosynostosis

10.1126/science.127.3289.79

Morton NE, 1959, Genetic test under incomplete ascertainment, Am J Hum Genet, 11, 1

Morton NE, 1974, Analysis of family resemblance. III. Complex segregation of quantitative traits, Am J Hum Genet, 26, 489

10.1093/hmg/2.2.119

Rao CR, 1992, Advanced Statistical Methods in Biometric Research

10.1002/ajmg.1320470511

Roberts KB, 1971, Apert's acrocephalosyndactyly in mother and daughter: Cleft palate in the mother, BD:OAS, 7, 262

10.1111/j.1399-0004.1988.tb03429.x

Shilitto J, 1968, Craniosynostosis: A review of 519 surgical patients, Pediatrics, 41, 829, 10.1542/peds.41.4.829

Shuper A, 1985, The incidence of isolated craniosynostosis in the newborn infants, Am J Dis Child, 139, 85

10.1038/352539a0

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Wiley

Tập 55 Số 4

500-504

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