Epiglottic hypoplasia associated with lacrimo-auriculo-dental-digital syndrome.
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.
Azar
T
T
Department of Otolaryngology-Head and Neck Surgery, Case Western Reserve University School of Medicine, University Hospitals of Cleveland, Ohio, USA.
Scott
J A
JA
Arnold
J E
JE
Robin
N H
NH
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002675:Child, Preschool; D004423:Ear / Q000002:abnormalities*; D004825:Epiglottis / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D007765:Lacrimal Apparatus / Q000002:abnormalities*; D008297:Male; D011859:Radiography; D013577:Syndrome; D013628:Talus / Q000002:abnormalities*; D014071:Tooth Abnormalities / Q000000981:diagnostic imaging