Cornelia de Lange Syndrome - a cause of hypertrichosis in children: case report and review of literature
Keywords:
Cornelia de Lange syndrome, Brachmann de Lange syndromeAbstract
Cornelia de Lange syndrome is a rare developmental disorder characterized by hypertrichosis, low intelligence, delayed milestones and skeletal and dental abnormalities. Gastroesophageal dysfunction, ophthalmologic, cardiac and genitourinary anomalies, learning difficulties, and mental retardation may be present in severe cases. We report a case of this syndrome who presented for laser treatment for the problem of hypertrichosis, and on examination other features of the syndrome were noted.References
De Lange C. Sur un type nouveau de degenerescence (typus Amstelodamensis) Arch Med Enfants 1933; 36: 713-9.
Brachmann W. Ein fall von symmetrischer monodaktylie durch Ulnadefekt, mit symmetrischer flughautbildung in den ellenbeugen, sowie anderen abnormitaten (zwerghaftogkeit, halsrippen, behaarung) Jarb Kinder Phys Erzie 1916; 84: 225-35.
Kline AD, Grados M, Sponseller P et al. Natural history of aging in Cornelia de Lange syndrome. Am J Med Genet C Semin Med Genet 2007; 145C: 248-60.
Beck B. Epidemiology of Cornelia de Lange's syndrome. Acta Paediatr Scand 1978; 65: 618-31.
Tayebi N. Cornelia de lange syndrome Indian J Hum Genet 2008; 14: 23-6.
Beck B, Fenger K. Mortality, pathological findings and causes of death in the De-Lange Syndrome. Acta Paediatr Scand 1985; 74: 765-9.
Pashayan H, Whelan D, Guttman S et al. Variability of the De Lange syndrome: report of 3 cases and genetic analysis of 54 families. J Pediatr 1969; 75: 853-8.
Tekin M. Cornelia De Lange Syndrome: Differential diagnoses [online cited: Nov 13, 2009] available from; http;//www.emed.med.com/article/942792-overview.
Wilson GN, Hieber VC, Schmickel RD. The association of chromosome 3 duplication and the Cornelia de Lange syndrome. J Pediatr 1978; 93: 783-8.
Krantz ID, Tonkin E, Smith M et al. Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome. Am J Med Genet 2001; 101: 120-9.
Tonkin E, Wang TJ, Lisgo S et al. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet 2004; 36: 636-41.
Shahzad A, Pal SS, Khurshid K. Cornelia De Lange Syndrome with generalized pustular psoriasis: a rare co-existence. J Pak Assoc Dermatol 2005; 15: 281-4.
Rajpar SF, Hague JS, Abdullah A, Lanigan SW. Hair removal with the long-pulse alexandrite and long-pulse Nd:YAG lasers is safe and well tolerated in children. J Clin Exp Dermatol 2009; 32: 77-81.