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Temporal bone histopathologic findings in partial trisomy 13 and partial trisomy 14
Seckin O Ulualp1, Charles G Wright, Peter S Roland
1Department of Otolaryngology-Head and Neck Surgery, University of Texas Southwestern Medical Center at Dallas, 5323 Harry Hines Blvd., Dallas, TX 75390-9035, USA.
Summary
Temporal bone histopathology in an infant with partial trisomies 13 and 14 revealed significant malformations of the external, middle, and inner ear structures. These findings highlight the complex otologic impact of these chromosomal abnormalities.
Area of Science:
- Otopathology
- Genetics
- Developmental Biology
Background:
- Partial trisomies of chromosomes 13 and 14 are rare genetic conditions.
- Understanding the phenotypic manifestations, including otologic abnormalities, is crucial for comprehensive patient care.
Observation:
- Autopsy examination of temporal bones from a 7-day-old neonate with partial trisomy 13 and 14.
- Histopathological and microdissection techniques were employed to study the external, middle, and inner ear structures.
Findings:
- Stenotic external auditory canals and middle ear remnants were observed.
- Malformed stapes, dehiscent facial nerve canals, and bilateral cochlear malformations including scala communis and short basilar membranes were noted.
- Unusual findings included blood vessels in scala vestibuli, cystic lesions in the stria vascularis, and connective tissue extension in the cochlea.
Implications:
- This study details novel temporal bone histopathology in partial trisomy 13 and 14.
- The observed otologic abnormalities contribute to the understanding of the spectrum of features associated with these trisomies.
- Findings may inform genetic counseling and clinical management of affected individuals.