The Campomelic syndrome. Temporal bone histopathologic features and otolaryngologic manifestations

• Published in: Archives of otolaryngology (1960) Vol. 105; no. 8; p. 449
• Main Authors: Tokita, N, Chandra-Sekhar, H K, Daly, J F, Becker, M H, Aleksic, S
• Format: Journal Article
• Language: English
• Published: United States 01.08.1979
• Subjects: Abnormalities, Multiple; Bone Diseases - diagnostic imaging; Bone Diseases - pathology; Cochlea - pathology; Craniofacial Dysostosis - complications; Craniofacial Dysostosis - diagnostic imaging; Dwarfism - complications; Dwarfism - diagnostic imaging; Ear, External - pathology; Ear, Inner - pathology; Ear, Middle - pathology; Female; Humans; Infant, Newborn; Male; Radiography; Temporal Bone - pathology; Vestibule, Labyrinth - pathology
• ISSN: 0003-9977
• DOI: 10.1001/archotol.1979.00790200011003

The campomelic syndrome is characterized by dwarfism, craniofacial anomalies, bowing of the tibiae and femora, cutaneous dimpling overlying the tibial bend, respiratory distress, and early death. Otolaryngologic manifestations include flat facies with a broad nasal bridge, low-set ears, cleft palate, mandibular hypoplasia, and tracheobronchial malacia. The underlying pathologic feature appears to be disturbance in cartilage growth involving the affected bones and the respiratory tract cartilage. The cause is unknown. We report clinical and histopathologic features in two cases of this syndrome. The endochondral layer of the otic capsule contained no cartilage cells. The cochlea was short and flattened, presenting a scala communis. The vestibule and the canals were deformed by bone invasion. Defective endochondral ossification of the petrooccipital synchondroses possibly explains the shortened skull base seen in this syndrome. The tracheobronchial malacia significantly contributes to respiratory distress and neonatal death.