Get access

Rhabdomyomatous hamartomata of the pharyngeal region with bilateral microtia and aural atresia: A new association?

Authors

  • Margaret P. Adam,

    Corresponding author
    1. Department of Human Genetics, Division of Medical Genetics, Emory University School of Medicine, Atlanta, Georgia
    2. Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia
    • Dept. of Human Genetics, Emory University School of Medicine, 2165 N. Decatur Rd., Decatur, GA 30033
    Search for more papers by this author
  • Carlos R. Abramowsky,

    1. Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia
    2. Department of Pathology, Emory University School of Medicine, Atlanta, Georgia
    Search for more papers by this author
  • April N. Brady,

    1. Department of Human Genetics, Division of Medical Genetics, Emory University School of Medicine, Atlanta, Georgia
    Search for more papers by this author
  • Karlene Coleman,

    1. Department of Human Genetics, Division of Medical Genetics, Emory University School of Medicine, Atlanta, Georgia
    2. Children's Healthcare of Atlanta at Egelston, Atlanta, Georgia
    Search for more papers by this author
  • N. Wendell Todd

    1. Department of Otolaryngology, Emory University School of Medicine, Atlanta, Georgia
    2. Pediatric Ear Nose Throat of Atlanta, Atlanta, Georgia
    Search for more papers by this author

  • Presented at the 33rd annual meeting of the Society for Ear, Nose, & Throat Advances in Children, December 1–4, 2005, Baltimore, MD and at the 27th annual David W. Smith Workshop on Malformations and Morphogenesis, September 8–13, 2006, Lake Arrowhead, CA.

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. CASES: 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. Birth Defects Research (Part A), 2007. © 2006 Wiley-Liss, Inc.

Ancillary