Total: 1 |
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PMID (PMCID) | ||
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9098488 |
MIXED_SAMPLE | Child |
Another "new" form, the palagonia type of acrofacial dysostosis in a Sicilian family. | ||
Sorge G, Pavone L, Polizzi A, Mauceri L, Leonardi RM, Tripi T, Opitz JM. Am J Med Genet. 1997;69(4):388-94. |
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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). |