Skin mastocytosis with short stature, conductive hearing loss and microtia: a new syndrome

B. Wolach, A. Raas‐Rothschild, A. Metzker, L. Choc, R. Straussberg, S. Lew, R. M. Goodman

Research output: Contribution to journalArticlepeer-review

Abstract

A 5‐year‐old Sephardic Jewish girl, born of consanguineous parents, is described. She has short stature, microcephaly, conductive hearing loss, skin mastocytosis and microtia. Since this constellation of findings has not been reported previously, we think that these findings represent a new congenital malformation, most probably of genetic etiology.

Original languageEnglish
Pages (from-to)64-68
Number of pages5
JournalClinical Genetics
Volume37
Issue number1
DOIs
StatePublished - Jan 1990
Externally publishedYes

Keywords

  • conductive hearing loss
  • mastocytosis
  • microtia
  • new malformation syndrome

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