10
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: not found

      Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH.

      European Journal of Medical Genetics
      Abnormalities, Multiple, genetics, pathology, Adolescent, Cleft Lip, Cleft Palate, DNA, Dwarfism, Follow-Up Studies, Humans, Hypertelorism, Intellectual Disability, Male, Nucleic Acid Hybridization, methods, Oligonucleotide Array Sequence Analysis, Syndrome, Time Factors

      Read this article at

      ScienceOpenPublisherPubMed
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          We report on a patient with mental and growth retardation, bilateral cleft lip and palate, hypertelorism, ptosis, hearing loss and mild epispadias, suggestive of Malpuech syndrome. High-resolution karyotype and microarray-CGH using an oligonucleotide array with 75Kb oligo's were normal, excluding Wolf-Hirschhorn syndrome. Long-term follow-up revealed psychiatric manifestations starting at young age.

          Related collections

          Author and article information

          Comments

          Comment on this article