Sotos syndrome and cutis laxa
Stephen P Robertson, Agnes Bankier
Victorian Clinical
Genetics Service, 10th Floor, Royal Children's Hospital, Parkville,
Victoria 3052, Australia
Correspondence to: Dr Robertson.
Received 8 April 1998;
Revised version accepted for publication 29 May 1998
Characteristics suggestive of connective tissue dysfunction
have been described in Sotos syndrome and include joint
hyperextensibility, pes planus, and a high arched palate. A variety of
cutis laxa syndromes have also been described, some of them exhibiting
mental retardation, but no reports have drawn an association with
overgrowth or abnormal facies characteristic of Sotos syndrome. We
report three patients with the anthropometric and dysmorphological
appearance of classical Sotos syndrome in association with redundant
skin folds, joint hypermobility, and, in two of the three,
vesicoureteric reflux suggestive of a coexisting connective tissue
disorder. All of the patients had a normal bone age suggesting that
Sotos syndrome in its classically described form was not present and that this entity possibly reflects a related, perhaps allelic, condition.
Keywords: Sotos syndrome; cutis laxa; vesicoureteric reflux
© 1999 by J Med Genet
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