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Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome

Kos, Sebastian ; Roth, Katharina ; Korinth, Dirk ; Zeilinger, Georg ; Eich, Georg

In: Pediatric Radiology, 2008, vol. 38, no. 8, p. 902-906

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    Titre
    • Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome
    Auteur
    • Kos, Sebastian. Institute of Radiology, University Hospital Basel, Petersgraben 4, 4031, Basel, Switzerland
    • Roth, Katharina. Division of Pediatric Surgery, Kantonsspital Aarau, Aarau, Switzerland
    • Korinth, Dirk. Institute of Medical Genetics, University Zürich, Zürich, Switzerland
    • Zeilinger, Georg. Department of Pediatrics, Kantonsspital Aarau, Aarau, Switzerland
    • Eich, Georg. Department of Radiology, Kantonsspital Aarau, Aarau, Switzerland
    Type de document
    • Postprint
    Identifiant OAI-PMH
    • oai:doc.rero.ch:314695
    Summary
    We present a preterm-born girl with polydactyly of both hands and massive hydrometrocolpos, the latter due to vaginal atresia. This association led initially to the diagnosis of McKusick-Kaufman syndrome (MKKS). However, additional features, including characteristic radiographic findings of the hands and a large hypothalamic tumour, presumably a hamartoma, favoured the diagnosis of Pallister-Hall syndrome (PHS), which was then genetically confirmed by detection of a GLI3 mutation (Q717X). This is the second genetically confirmed case revealing the previously described association of PHS with hydrometrocolpos due to vaginal atresia as a clinical overlap with MKKS