Abstract
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
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- Allanson J., Austin W., Hecht F. Congenital cutis laxa with retardation of growth and motor development: a recessive disorder of connective tissue with male lethality. Clin Genet. 1986 Feb;29(2):133–136. doi: 10.1111/j.1399-0004.1986.tb01236.x. [DOI] [PubMed] [Google Scholar]
- Beighton P. The dominant and recessive forms of cutis laxa. J Med Genet. 1972 Jun;9(2):216–221. doi: 10.1136/jmg.9.2.216. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Brown F. R., 3rd, Holbrook K. A., Byers P. H., Stewart D., Dean J., Pyeritz R. E. Cutis laxa. Johns Hopkins Med J. 1982 Apr;150(4):148–153. [PubMed] [Google Scholar]
- Cole T. R., Hughes H. E. Sotos syndrome. J Med Genet. 1990 Sep;27(9):571–576. doi: 10.1136/jmg.27.9.571. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Cole T. R., Hughes H. E. Sotos syndrome: a study of the diagnostic criteria and natural history. J Med Genet. 1994 Jan;31(1):20–32. doi: 10.1136/jmg.31.1.20. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Cole T. Congenital urological anomalies in Sotos syndrome. Br J Urol. 1996 Jul;78(1):156–156. [PubMed] [Google Scholar]
- De Paepe A., Devereux R. B., Dietz H. C., Hennekam R. C., Pyeritz R. E. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet. 1996 Apr 24;62(4):417–426. doi: 10.1002/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2-R. [DOI] [PubMed] [Google Scholar]
- Gorlin R. J., Cohen M. M., Jr Craniofacial manifestations of Ehlers-Danlos syndromes, cutis laxa syndromes, and cutis laxa-like syndromes. Birth Defects Orig Artic Ser. 1989;25(4):39–71. [PubMed] [Google Scholar]
- Hammadeh M. Y., Dutta S. N., Cornaby A. J., Morgan R. J. Congenital urological anomalies in Sotos syndrome. Br J Urol. 1995 Jul;76(1):133–135. doi: 10.1111/j.1464-410x.1995.tb07848.x. [DOI] [PubMed] [Google Scholar]
- Hashimoto K., Kanzaki T. Cutis laxa. Ultrastructural and biochemical studies. Arch Dermatol. 1975 Jul;111(7):861–873. doi: 10.1001/archderm.111.7.861. [DOI] [PubMed] [Google Scholar]
- Kunze J., Majewski F., Montgomery P., Hockey A., Karkut I., Riebel T. De Barsy syndrome--an autosomal recessive, progeroid syndrome. Eur J Pediatr. 1985 Nov;144(4):348–354. doi: 10.1007/BF00441776. [DOI] [PubMed] [Google Scholar]
- Patton M. A., Tolmie J., Ruthnum P., Bamforth S., Baraitser M., Pembrey M. Congenital cutis laxa with retardation of growth and development. J Med Genet. 1987 Sep;24(9):556–561. doi: 10.1136/jmg.24.9.556. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Rogers J. G., Danks D. M. Cutis laxa with delayed development. Aust Paediatr J. 1985 Nov;21(4):281–283. doi: 10.1111/j.1440-1754.1985.tb00166.x. [DOI] [PubMed] [Google Scholar]
- Wit J. M., Beemer F. A., Barth P. G., Oorthuys J. W., Dijkstra P. F., Van den Brande J. L., Leschot N. J. Cerebral gigantism (Sotos syndrome). Compiled data of 22 cases. Analysis of clinical features, growth and plasma somatomedin. Eur J Pediatr. 1985 Jul;144(2):131–140. doi: 10.1007/BF00451898. [DOI] [PubMed] [Google Scholar]