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Bardet-Biedl and Cohen syndromes: differential diagnostic criteria
  1. METTE WARBURG*,
  2. RUTH RIISE
  1. *Centre for Disabled People, Bank-Mikkelsensvej 1, DK-2810 Gentofte, Denmark
  2. †Department of Ophthalmology, Central Hospital, Hedmark, N-2326 Hamar, Norway
  1. M Warburg, Mette.Warburg{at}dadlnet.dk

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Editor—Fig 1 in the paper by Bealeset al 1 shows portraits of six patients with the Bardet-Biedl syndrome (BBS). Number 4, the lower left picture, has the facial appearance of the Cohen syndrome (CS) with apparent microcephaly, thick hair, coarse eyebrows, short philtrum, and prominent incisors. Since she is presented as a case of the BBS, she should have a rod-cone retinal dystrophy and other signs of BBS.

The differential diagnosis between BBS and CS is so far a clinical one. Both disorders present rod-cone dystrophy from an early age, obesity, and often speech disorders/delay.1 2 The differences between the two are renal anomalies, male hypogenitalism, radiographic poly/syndactyly, and normal intelligence to mild intellectual disability in BBS.1 3 In CS, there are short, thin fingers and metacarpals, obesity localised to the abdomen, thin arms and legs, …

Dr Beales, pbeales{at}bcm.tmc.edu

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