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Analysis of 9 cases of bilateral bent limbs (campomelia) and dwarfism, as well as a review of the literature, indicate that campomelic syndrome appears to be a well-defined distinct disorder which the authors call long-limbed campomelic syndrome. Other neonates with congenital bent-limbed dwarfism can be classified as having short-limbed campomelic syndrome, and among these at least two distinct forms have been delineated--the craniosynostotic and the normocephalic form. Congenital bent bones also occur in a variety of generalized disorders of ossification that must be distinguished from these well-defined types of campomelic dwarfism.

Three cases of LEOPARD-syndrome are presented. A review of literature is given. Among the symptoms of the syndrome lentigines, ECG-abnormalities, pulmonal-stenosis, retardation of growth and deafness show the strongest penetrance and are most constantly found.

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.