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Eur J Med Genet. 2007 Jan-Feb;50(1):85-91. Epub 2006 Sep 9.

Spondylocostal dysostosis, anal and genitourinary malformations in a fetal case: a new case of Casamassima-Morton-Nance syndrome?


Casamassima-Morton-Nance syndrome belongs to the heterogeneous group of spondylocostal dysostoses (SCD) represented by a large heterogeneous group in which diverse diagnoses, associations and modes of inheritance are found. Common features include segmentation abnormalities of the vertebrae and ribs. Here, we report on a fetal case with spondylocostal dysostosis, anal and genitourinary malformations and discuss Casamassima-Morton-Nance syndrome.

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