A syndrome of craniosynostosis, midfacial hypoplasia, hypertrichosis, and anomalies of the heart, eyes, teeth, and external genitalia. Characteristic features include dental anomalies, microphthalmia, inability to close or open eyes completely, colobomas of the upper eyelids, oblique palpebral fissures, horizontal nystagmus at lateral gaze, limited upper gaze, astigmatism, hyperopia, corneal scars. Roentgenographic findings show premature synostosis of the corneal sutures, hypoplasia of the nasal and maxillary bones, brachycephaly, hypertelorism, clival hypoplasia, and elevation of the lesser sphenoid wings. Patent ductus arteriosus, hypoplasia of the labia majora, and umbilical hernia er usually associated. Present from birth. Etiology unknown. Autosomal recessive inheritance is suspected.
The authors made their description on the basis of two sisters with practically identical symptomatics.
- R. J. Gorlin, A. P. Chaudry, M. L. Moss:
Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies - a new syndrome?
Journal of Pediatrics, St. Louis, 1960, 56: 778-785.