PT  - JOURNAL ARTICLE
AU  - Stephen P Robertson
AU  - Agnes Bankier
TI  - Sotos syndrome and cutis laxa
AID  - 10.1136/jmg.36.1.51
DP  - 1999 Jan 01
TA  - Journal of Medical Genetics
PG  - 51--56
VI  - 36
IP  - 1
4099  - http://jmg.bmj.com/content/36/1/51.short
4100  - http://jmg.bmj.com/content/36/1/51.full
SO  - J Med Genet1999 Jan 01; 36
AB  - 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.