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Mosaic trisomy 5 is a very rare condition in liveborns, with few cases reported in the last four decades. There are some reports… Expand INTRODUCTION
Preaxial polydactyly is one of the most common congenital malformations of the hand. The treatment is surgical and… Expand Oral–facial–digital syndrome type II (OFP syndrome II; orofaciodigital syndrome II) is a rare autosomal recessive syndrome, first… Expand We report a dysmorphic boy with a de novo partial trisomy 1q. The boy has microcephaly, bilateral cleft lip and palate, low set… Expand We report on a Brazilian girl born to nonconsanguineous parents and presenting with frontonasal dysostosis, callosal agenesis… Expand Bifid thumb is a rare manifestation of polydactyly. The trait is autosomal dominant, but the expressivity is highly variable. It… Expand 20 patients were reviewed following surgery for bifid thumbs. Those patients with Wassel 1 or 2 duplications generally did well… Expand