title: Rhabdomyomatous hamartomata of the pharyngeal region with bilateral microtia and aural atresia: a new association?
abstract: BACKGROUND
  Bilateral microtia with aural atresia is rare. Rhabdomyomatous hamartomata containing salivary tissue, situated bilaterally and symmetrically simulating the palatine (faucial) tonsils, has apparently not been reported. We present the combination of these findings in two unrelated patients.
  
  
  METHODS
  In the first case, the patient was exposed prenatally to 13-cis-retinoic acid (isotretinoin) and has typical features of this exposure, including bilateral microtia with aural atresia and bilateral 7th nerve palsies. Due to symptoms of obstructive sleep apnea, patient 1 had a "tonsillectomy" and adenoidectomy. Histopathologic studies demonstrated rhabdomyomatous hamartomata containing salivary and striated muscle tissue in place of the palatine tonsils. In the second case, the patient had been prenatally exposed to alcohol, cocaine, and marijuana. He has been noted to have developmental delay and behavioral issues in addition to bilateral microtia with aural atresia. "Tonsillectomy" and adenoidectomy were performed to alleviate chronic upper respiratory infections and snoring. Again, histopathologic studies of the tissue submitted as "tonsil" demonstrated rhabdomyomatous hamartomata containing salivary and muscle tissue. Although an extended banded karyotype and subtelomere panel were normal, a genetic etiology for the second patient's features cannot be excluded.
  
  
  CONCLUSIONS
  We hypothesize that the findings of bilateral microtia with aural atresia and rhabdomyomatous hamartomata containing salivary and muscle tissue in the area of the palatine tonsils may represent a newly recognized association, which may have a teratogenic and/or genetic etiology.
authors.affiliation: Department of Human Genetics, Division of Medical Genetics, Emory University School of Medicine, Atlanta, Georgia 30033, USA. madam@genetics.emory.edu
authors.forename: Margaret P
authors.initials: MP
authors.lastname: Adam
authors.forename: Carlos R
authors.initials: CR
authors.lastname: Abramowsky
authors.forename: April N
authors.initials: AN
authors.lastname: Brady
authors.forename: Karlene
authors.initials: K
authors.lastname: Coleman
authors.forename: N Wendell
authors.initials: NW
authors.lastname: Todd
mesh_terms: D002648:Child; D002675:Child, Preschool; D004424:Ear Canal / Q000002:abnormalities*; D004431:Ear, External / Q000002:abnormalities*; D006222:Hamartoma / Q000150:complications* / Q000473:pathology; D006801:Humans; D008297:Male; D014066:Palatine Tonsil / Q000473:pathology; D010608:Pharyngeal Diseases / Q000150:complications* / Q000473:pathology; D010614:Pharynx / Q000002:abnormalities