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Campomelic Dysplasia (0)
Articles on Campomelic Dysplasia
[Cis-ruptions of highly conserved non-coding genomic elements distant from the SOX9 gene in the Pierre Robin sequence].
We have used the SOX9 locus and campomelic dysplasia as a model to show that one or several endophenotypes within a complex syndrome may arise from a tissue-specific deregulation of a major developmental gene transcription. Our work has focused on one of these endophenotypes, SPR, characterized by t...
A male newborn infant with fatco syndrome (fibular aplasia, tibial campomelia and oligodactyly): a case report.
We report a male infant with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO syndrome). Radiographs showed a short angulated left tibia with fibular aplasia and ipsilateral oligodactyly. We consider our case the 7th patient with FATCO syndrome.
Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of