Epiglottic hypoplasia associated with lacrimo-auriculo-dental-digital syndrome

Ann Otol Rhinol Laryngol. 2000 Aug;109(8 Pt 1):779-81. doi: 10.1177/000348940010900814.

Abstract

We present a case of a young boy with clinical manifestations of lacrimo-auriculo-dental-digital syndrome (LADD) with the additional finding of a hypoplastic epiglottis that caused airway obstruction at birth. We also reviewed the 30 cases of LADD that have been reported since 1967. It is a rare syndrome that includes lacrimal system, aural, digital, and dental anomalies. Our patient has lacrimal duct obstruction, deficient tissue in the inferior portion of the ear pinnae, and a hypoplastic epiglottis with collapse of the supraglottic tissue. Many findings of LADD are recognizable at birth. The clinical spectrum has widened with more case reports. Our patient adds a life-threatening airway abnormality, a hypoplastic epiglottis, to the clinical spectrum of LADD.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Child, Preschool
  • Ear / abnormalities*
  • Epiglottis / abnormalities*
  • Epiglottis / diagnostic imaging
  • Humans
  • Lacrimal Apparatus / abnormalities*
  • Male
  • Radiography
  • Syndrome
  • Talus / abnormalities*
  • Tooth Abnormalities* / diagnostic imaging