Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome.
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.
Kos
Sebastian
S
Institute of Radiology, University Hospital Basel, Petersgraben 4, Basel, Switzerland. skos@gmx.de
Roth
Katharina
K
Korinth
Dirk
D
Zeilinger
Georg
G
Eich
Georg
G
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D005260:Female; D006801:Humans; D052202:Hydrocolpos / Q000150:complications* / Q000175:diagnosis*; D007031:Hypothalamus / Q000000981:diagnostic imaging / Q000473:pathology; D007231:Infant, Newborn; D054975:Pallister-Hall Syndrome / Q000150:complications* / Q000175:diagnosis*; D017689:Polydactyly / Q000150:complications* / Q000175:diagnosis*; D011859:Radiography