Acrofacial Dysostosis, Palagonia Type

Clinical Features

Sorge et al. (1997) observed 4 members of a family coming from Palagonia, a small Sicilian village, with an apparently unreported form of acrofacial dysostosis. They compared the disorder with another acrofacial dysostosis (AFD) described in Sicily and referred to as the Catania type (101805). In contradistinction to Catania AFD, the 4 patients with the Palagonia form were of normal intelligence, and instead of extensive caries had oligodontia (in all 4), short stature (in 3), frizzy hair (pili torti) with aplasia cutis verticis (in 1), mild cutaneous syndactyly of digits 2-5 (in all 4), attenuation of the fourth metacarpal (in 3 of 3 with metacarpophalangeal profiles), unilateral cleft lip (in 1) and some vertebral anomalies such as a large atlas (in 1), mild scoliosis (in 1), small odontoid process, and spina bifida occulta at S1 (in 1). They suggested this may be an 'iceberg' dominant disorder, by which they meant that the severely affected proposita had brought the condition to attention.

Inheritance

Although X-linked dominant inheritance was possible for this form of acrofacial dysostosis, Sorge et al. (1997) favored autosomal dominant inheritance.