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

Abstract

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.

• Authors: Sebastian Kos, Katharina Roth, Dirk Korinth, Georg Zeilinger, Georg Eich
• Journal: Pediatric radiology (Pediatr Radiol) Vol. 38 Issue 8 Pg. 902-6 (Aug 2008) ISSN: 0301-0449 [Print] Germany
• PMID: 18478223 (Publication Type: Journal Article)

Topics

• Abnormalities, Multiple (diagnosis)
• Female
• Humans
• Hydrocolpos (complications, diagnosis)
• Hypothalamus (diagnostic imaging, pathology)
• Infant, Newborn
• Pallister-Hall Syndrome (complications, diagnosis)
• Polydactyly (complications, diagnosis)
• Radiography