Another "new" form, the palagonia type of acrofacial dysostosis in a Sicilian family.
We described another previously apparently unreported form of acrofacial dysostosis (AFD) from Sicily, residing, coincidentally in the same small village as that with the recently delineated Catania AFD. In contra-distinction to the latter, the 4 patients with the Palagonia form of AFD are of normal intelligence, and instead of extensive caries have oligodontia (4), short stature (3), frizzy hair (pili torti) with aplasia cutis verticis (1), mild cutaneous syndactyly of digits 2-5 (4), attenuation of the 4th metacarpals (3/3), unilaterally cleft lip (1), and some vertebral anomalies such as a large atlas (1), mild scoliosis (1), small odontoid process, spina bifida occulta at S1 (1). Casually, this would appear to be an iceberg dominant disorder, with the proposita most severely affected. This could be an X-linked dominant, but more likely an autosomal dominant trait.
Sorge
G
G
Clinica Pediatrica, Università di Catania, Italy.
Pavone
L
L
Polizzi
A
A
Mauceri
L
L
Leonardi
R M
RM
Tripi
T
T
Opitz
J M
JM
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003394:Craniofacial Dysostosis / Q000000981:diagnostic imaging; D005260:Female; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D011859:Radiography; D012802:Sicily; D014096:Tooth, Supernumerary / Q000000981:diagnostic imaging