Abstract
We report two families with an autosomal dominant syndrome of abnormalities of the hands and feet, short palpebral fissures, and variable microcephaly with learning disability. Between a third and a quarter of cases are born with oesophageal atresia, duodenal atresia, or both. Individual patients have hypoplastic thumbs or congenital heart disease. The phenotype of the syndrome reported here is similar to that observed in 13q22-qter deletion patients. However, chromosome analysis has not detected any structural abnormality in our patients.
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- Best L. G., Wiseman N. E., Chudley A. E. Familial duodenal atresia: a report of two families and review. Am J Med Genet. 1989 Nov;34(3):442–444. doi: 10.1002/ajmg.1320340322. [DOI] [PubMed] [Google Scholar]
- Chen H., Goei G. S., Hertzler J. H. Family studies on congenital esophageal atresia with or without tracheoesophageal fistula. Birth Defects Orig Artic Ser. 1979;15(5C):117–144. [PubMed] [Google Scholar]
- David T. J., O'Callaghan S. E. Oesophageal atresia in the South West of England. J Med Genet. 1975 Mar;12(1):1–11. doi: 10.1136/jmg.12.1.1. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Feingold M. An unusual microcephaly. Hosp Pract. 1978 Feb;13(2):44–49. doi: 10.1080/21548331.1978.11707275. [DOI] [PubMed] [Google Scholar]
- Kurczynski T. W., Casperson S. M. Auralcephalosyndactyly: a new hereditary craniosynostosis syndrome. J Med Genet. 1988 Jul;25(7):491–493. doi: 10.1136/jmg.25.7.491. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Martinez-Frías M. L., Frías J. L., Salvador J. Clinical/epidemiological analysis of malformations. Am J Med Genet. 1990 Jan;35(1):121–125. doi: 10.1002/ajmg.1320350123. [DOI] [PubMed] [Google Scholar]
- Opitz J. M., Holt M. C. Microcephaly: general considerations and aids to nosology. J Craniofac Genet Dev Biol. 1990;10(2):175–204. [PubMed] [Google Scholar]
- Szendrey T., Danyi G., Czeizel A. Etiological study on isolated esophageal atresia. Hum Genet. 1985;70(1):51–58. doi: 10.1007/BF00389459. [DOI] [PubMed] [Google Scholar]
- Van Staey M., De Bie S., Matton M. T., De Roose J. Familial congenital esophageal atresia. Personal case report and review of the literature. Hum Genet. 1984;66(2-3):260–266. doi: 10.1007/BF00286613. [DOI] [PubMed] [Google Scholar]
- Warren J., Evans K., Carter C. O. Offspring of patients with tracheo-oesophageal fistula. J Med Genet. 1979 Oct;16(5):338–340. doi: 10.1136/jmg.16.5.338. [DOI] [PMC free article] [PubMed] [Google Scholar]