Many syndromes associated with ptosis of the eyelid or with congenital fusion of the vertebral column have been described.1-3 However, we could find no description of a heritable vertebral defect involving principally posterior vertebral fusion or of an association of this type of defect with congenital ptosis. This report describes a mother and daughter with virtually identical vertebral and eye defects and the mother's stillborn infant who also had the vertebral anomalies.
Report of a Case
A 13-month-old white girl was hospitalized with a chief complaint of having maintained her hips and knees in a semi-flexed position since birth. The patient was the product of an uncomplicated gestation and normal spontaneous delivery. Her birth weight was 3.2 kg (7 lb), and physical examination at birth revealed that the infant held her hips and knees flexed and her legs abducted. At several months of age, the parents were informed
Faulk WP, Epstein CJ, Jones MD. Familial Posterior Lumbosacral Vertebral Fusion and Eyelid Ptosis. Am J Dis Child. 1970;119(6):510–512. doi:10.1001/archpedi.1970.02100050512011
Artificial Intelligence Resource Center
Customize your JAMA Network experience by selecting one or more topics from the list below.