Search tips
Search criteria 


Logo of jmedgeneJournal of Medical GeneticsVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
J Med Genet. 1991 June; 28(6): 389–394.
PMCID: PMC1016903

Autosomal dominant inheritance of abnormalities of the hands and feet with short palpebral fissures, variable microcephaly with learning disability, and oesophageal/duodenal atresia.


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.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (1.5M), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • David TJ, O'Callaghan SE. Oesophageal atresia in the South West of England. J Med Genet. 1975 Mar;12(1):1–11. [PMC free article] [PubMed]
  • Szendrey T, Danyi G, Czeizel A. Etiological study on isolated esophageal atresia. Hum Genet. 1985;70(1):51–58. [PubMed]
  • Chen H, Goei GS, Hertzler JH. Family studies on congenital esophageal atresia with or without tracheoesophageal fistula. Birth Defects Orig Artic Ser. 1979;15(5C):117–144. [PubMed]
  • Van Staey M, De Bie S, Matton MT, De Roose J. Familial congenital esophageal atresia. Personal case report and review of the literature. Hum Genet. 1984;66(2-3):260–266. [PubMed]
  • Warren J, Evans K, Carter CO. Offspring of patients with tracheo-oesophageal fistula. J Med Genet. 1979 Oct;16(5):338–340. [PMC free article] [PubMed]
  • Martinez-Frías ML, Frías JL, Salvador J. Clinical/epidemiological analysis of malformations. Am J Med Genet. 1990 Jan;35(1):121–125. [PubMed]
  • Feingold M. An unusual microcephaly. Hosp Pract. 1978 Feb;13(2):44–49. [PubMed]
  • Kurczynski TW, Casperson SM. Auralcephalosyndactyly: a new hereditary craniosynostosis syndrome. J Med Genet. 1988 Jul;25(7):491–493. [PMC free article] [PubMed]
  • Opitz JM, Holt MC. Microcephaly: general considerations and aids to nosology. J Craniofac Genet Dev Biol. 1990;10(2):175–204. [PubMed]
  • Best LG, Wiseman NE, Chudley AE. Familial duodenal atresia: a report of two families and review. Am J Med Genet. 1989 Nov;34(3):442–444. [PubMed]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group