An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology

Jennifer L. Stinson, Jennifer A. Brault, Paula R. Delk, Brett H. Graham, Boaz Karmazyn, Bryan Hall, David D. Weaver

Research output: Contribution to journalArticle

Abstract

We report on a 26-year-old male with extreme short stature, microcephaly, macroglossia, other dysmorphic features, severe intellectual disability, and a bone dysplasia. The patient had an extensive genetic and biochemical evaluation that was all normal or noninformative. Recently, the proband died following a period of not eating. He likely had a previously undescribed syndrome of unknown etiology.

Original languageEnglish (US)
Pages (from-to)1562-1571
Number of pages10
JournalAmerican Journal of Medical Genetics, Part A
Volume182
Issue number7
DOIs
StatePublished - Jul 1 2020

Keywords

  • bone dysplasia
  • intellectual disability
  • macroglossia
  • microcephaly
  • short stature
  • whole exome sequencing

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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