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Spondyloepiphyseal dysplasia, Nishimura type
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit.
Micrognathia
Developmental hypoplasia of the mandible.
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PMID (PMCID)