Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes
Albert Davida, Pierre Bitounb, Didier Lacombec, Jean-Claude Lambertd, Annie Nivelone, Jacqueline Vigneronf, Alain Verloesg
a Department of
Paediatrics and Human Genetics, Nantes University Hospital, France, b Department of Paediatrics and
Genetics, Hôpital Jean Verdier, Bondy, France, c Department of Paediatrics and Human Genetics,
Bordeaux University Hospital, France, d Department
of Genetics, Centre Hospitalier Universitaire de l'Archet, Nice,
France, e Genetic Centre,
Children's Hospital, Dijon University Hospital, France, f Department of Neonatology and Genetics,
Regional Maternity Antoine Pinard, Nancy, France, g Wallonia Centre of Human Genetics, Liège
University, CHU Sart Tilman, B-4000 Liège, Belgium
Correspondence to: Professor Verloes.
Received 30 July 1998;
Revised version accepted for publication 23 March 1999
McKusick-Kaufman syndrome (MKKS) is a rare, recessively
inherited syndrome reported mainly in young children and is
characterised by vaginal atresia with hydrometrocolpos, postaxial
polydactyly, and congenital heart defect. Bardet-Biedl syndrome (BBS)
is the generic name for a genetically heterogeneous group of autosomal recessive disorders characterised by retinal dystrophy or retinitis pigmentosa (appearing usually between 10 and 20 years of age), postaxial polydactyly, obesity, nephropathy, and mental disturbances, or, occasionally, mental retardation. Typically, MKKS is diagnosed (and
reported) in very young children, whereas the diagnosis of BBS often is
delayed to the teenage years.
We report here a series of nine patients diagnosed in infancy with MKKS
because of the presence of vaginal atresia and postaxial polydactyly,
who later developed obesity and retinal dystrophy, thus turning out to
be instances of BBS.
The overlap of BBS and MKKS is a real diagnostic pitfall and its
importance has to be stressed, for genetic counselling, for clinical
management and follow up, and for molecular approaches. The diagnosis
of MKKS should be considered with caution in all published cases
described exclusively in the neonatal period and in those with mental
retardation. We strongly recommend all children seen in infancy with a
diagnosis of MKKS to be re-evaluated for RP and other signs of BBS.
Keywords: Bardet-Biedl syndrome; McKusick-Kaufman syndrome; hydrometrocolpos
© 1999 by J Med Genet
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