The "campomelic" syndrome. Short life-span dwarfism with respiratory distress, hypotonia, peculiar facies, and multiple skeletal and cartilaginous deformities.

Abstract

The campomelic (from the Greek bent limbs) syndrome is characterized by dwarfism, peculiar facies with cleft palate, numerous cartilage and osseous anomalies including prenatal bowing of the lower extremities with pretibial skin dimpling, respiratory distress, generalized hypotonia, and neonatal death. The clinical, radiographic, and pathologic findings in three cases are presented. Absence of the olfactory nerves in two of the patients and tracheobronchial and ear deformities in all three patients indicate that the process is not restricted to the skeleton. The tracheobronchial hypoplasia significantly contributed to respiratory distress and neonatal death. No common denominator could be established among the three cases to indicate cause.