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

H G Brunner; R M Winter

doi:10.1136/jmg.28.6.389

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

J Med Genet. 1991 Jun;28(6):389-94. doi: 10.1136/jmg.28.6.389.

Authors

H G Brunner¹, R M Winter

Affiliation

¹ Department of Human Genetics, University Hospital Nijmegen, The Netherlands.

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.

Publication types

Case Reports

MeSH terms

Duodenal Obstruction / congenital*
Esophageal Atresia / genetics*
Eyelids / abnormalities*
Female
Foot Deformities, Congenital / genetics*
Genes, Dominant
Hand Deformities, Congenital / genetics*
Humans
Infant, Newborn
Intestinal Atresia / genetics*
Learning Disabilities / genetics*
Male
Microcephaly / genetics*
Pedigree
Pregnancy
Syndrome