Plantar lipomatosis, unusual facial phenotype and developmental delay: A new MCA/MR syndrome

Mary Ella M. Pierpont, Fiona J. Stewart, Robert J. Gorlin

Research output: Contribution to journalArticle

14 Scopus citations

Abstract

We describe two boys with global developmental delay and a phenotype of microcephaly, midface hypoplasia, enlarged fleshy ears, depressed nasal bridge, anteverted nostrils, central palatal ridge, and high forehead. Bilateral congenital fat pads are present anteromedial to the heels. Fetal finger and toe pads are present and palmar and plantar grooves are deeper than normal with 'pillowing' of the areas between the grooves. No patients with similar clinical findings have been located, but these two children have a remarkably similar clinical presentation which we consider a 'new' syndrome.

Original languageEnglish (US)
Pages (from-to)18-21
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume75
Issue number1
DOIs
StatePublished - Jan 6 1998

Keywords

  • Fetal finger and toe fat pads
  • Mental retardation
  • Plantar fat pads
  • Plantar lipomatosis

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