This form of acrofacial dysostosis was detected in the same village as the original acrofacial dysostosis Catania Type family (both in Sicily, Italy) and share many similar features, but in contrast to the Catania Type, Palagonia Type patients present with normal intelligence and suffer from oligodontia, but not extensive cavities. The proposita presented with normal development, short stature, pili torti with low-posterior hairline, two symmetrical areas of aplasia cutis verticis on the head, prominent forehead, mild downslanting of the palpebral fissures, sparse lateral eyebrows, lower lid ectropion with virtual absence of lower eyelashes, malar hypoplasia, prominent tip of the nose, micrognathia, dental anomalies (oligo-/hypodentia), and low-set and posteriorly rotated auricles. The neck was short with a large atlas (C1), mild scoliosis, and sacral spina bifida occulta. Two of the siblings (the older brother and the younger sister) had almost identical findings (except for a small odontoid process, cleft lip, and normal hair and skin in the brother). Mild cutaneous syndactyly of digits II-V was found in the three siblings and their mother. The inheritance pattern is most likely autosomal dominant. The overall phenotype of this form of acrofacial dysostosis is rather mild and difficult airway management and peripheral vascular access should be less likely to occur in these patients. The same anesthetic concerns and pharmacologic implications as described here for acrofacial dysostosis Weyers Type would apply, although cardiac defects have not been described in the Palagonia Type patients.
et al: Another “new” form, the Palagonia type of acrofacial dysostosis in a Sicilian family. Am J Med Genet