Tall stature, microcephaly, hypotonia, advanced bone age, and unusual infra-auricular creases

Am J Med Genet. 1998 Jan 23;75(3):261-2.

Abstract

The patient is a 16-month-old girl with tall stature, hypotonia, unusual facial appearance, acquired microcephaly, advanced bone age without apparent sexual precocity or acromegaly, and symmetric horizontal creases below the earlobes. Her combination of anomalies appears to constitute a previously unreported syndrome.

Publication types

  • Case Reports

MeSH terms

  • Age Determination by Skeleton
  • Body Height / genetics*
  • Bone and Bones / abnormalities*
  • Ear, External / abnormalities*
  • Female
  • Growth Disorders / genetics*
  • Humans
  • Infant
  • Microcephaly / genetics*
  • Muscle Hypotonia / genetics*
  • Syndrome