Temporal bone histopathological findings in campomelic dysplasia.
Both temporal bones of a newborn (35 gestational weeks old) with campomelic syndrome were studied histopathologically. This is to our knowledge the second temporal bone report (third case) of this syndrome. The findings included: abnormal cartilagenous and osseous tissues and abnormality in the globuli interossei in the otic capsule; deformities of the vestibule and semicircular canals, probably due to compression by the abnormal cartilaginous tissue; hypoplastic cochlea and semicircular canals; aberrant course of the facial nerve; wide dehiscence of the facial canal in the tympanic portion; slight hypoplasia of the malleus and anomalies in the incus and stapes; and large epitympanic space. These findings closely resembled those of the first report, and suggest that: 1) campomelic dysplasia is a definite disease entity with consistent pathogenesis, and 2) similar otologic manifestations may be expected in the majority of patients with this syndrome.
Takahashi
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Elizabeth McCullough Knowles Otopathology Laboratory, Department of Otolaryngology, University of Pittsburgh School of Medicine.
Sando
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Masutani
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D000015:Abnormalities, Multiple / Q000473:pathology*; D004392:Dwarfism / Q000473:pathology*; D004429:Ear Ossicles / Q000002:abnormalities; D007758:Ear, Inner / Q000002:abnormalities; D005154:Facial Nerve / Q000002:abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome; D013701:Temporal Bone / Q000473:pathology*