Autosomal dominant microcephaly with normal intelligence, short palpebral fissures, and digital anomalies

Jeffrey W. Innis*, James H. Asher, Andrew K. Poznanski, Susan Sheldon

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

9 Scopus citations

Abstract

We describe a family segregating an autosomal dominant mutation producing a syndrome comprising microcephaly with normal intelligence and short palpebral fissures together with variable signs including thumb hypoplasia, shortness of the middle phalanges of the second and fifth fingers, small feet, a gap between the first and second toes, and mild syndactyly of the toes or fingers. A characteristic radiologic finding in our family is thinning of the proximal end of the firs metacarpal. The severity of these findings was asymmetric in our patients. This syndrome is similar to patients described by Brunner and Winter [1991: J Med Genet 28: 389-394], Feingold [1975: Synd Ident 3:16-17, 1978: Hosp Prac 13:44-49], and Konig et al. [1990: Dysmorphol Clin Genet 4:83-86].

Original languageEnglish (US)
Pages (from-to)150-155
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume71
Issue number2
DOIs
StatePublished - Aug 8 1997

Keywords

  • Autosomal dominant
  • Digital anomalies
  • Microcephaly
  • Short palpebral fissures
  • Syndactyly
  • Thumb hypoplasia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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