Cornelia de Lange syndrome- Report of the Second Case from Ahvaz

Document Type : Case Report


1 Professor of Pediatrics Nephrology.Diabetes Research Center, Department of Pediatric Nephrology Division, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

2 Intern.Shahid Beheshti University of Medical Sciences, Tehran, Iran.

3 Senior Resident.Abuzar Children's hospital, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

4 Sonoir Resident of Radiology. Department of Radiology,Shariati hospital,Tehran University of Medical Sciences, Tehran, Iran.


Cornelia de Lange syndrome (CdLS) is a rare hereditary disease, characterized by severe growth retardation, microcephaly, and limb anomalies, distinctive dysmorphic features and mental retardation. The etiology is not still clear. However, it is caused by mutation of the nipped- B- like (NIPBL) gene in approximately 50% of cases. Here, we report our second case of CdLS from Ahvaz after 19 years. The patient was a 15- month girl admitted in our center due to urinary tract infection. She had characteristic dysmorphic features, microcephaly, growth and developmental retardation, upper and lower limb defects, associated with renal cyst and dysplasia.
CdLS is a rare hereditary syndrome with severe congenital anomalies. The diagisis is practically based on the characteristic phenotype. The further prognosis is poor.


1-Brachmann W. [A case of symmetrical monodactyly, representing ulnar deficiency, with symmetrical antecubital webbing and other abnormalities, (dwarfism, cervical ribs, hirsutism)]. Jahrbuch fuer kinderheikunde und physische eriehung 1916;84:225-35.
2-De Lange C. Sur un type nouveau de degeneration(Typus amstelodamensis).Arch Med Enfants1933;36:713- 9.
3-Wiedemann HR, Grosse KR, Dibbern H. Cornelia de Lange syndrome. In: Wiedemann HR, Grosse FR, Dibbern H. Characteristic syndromes. 2nd ed. stuttgart:Wolfe Medical Publications; wolfe 1992. P. 118-9.
4-Farhoud DD, Mohammadi Asl J. Cornelia de Lange Syndrome: report of a new case from Iran. Iranian Journal of pediatrics 2002;12(3):54-7.
5-Barisic I, Tokic V, Loane M, Bianchi F, Calzolari E, Garne E, et al. Descriptive epidemiology of Cornelia de Lange in Europe. Am J Med Genet A 2008;146A(1):51- 9.
6-Beck B, Fenger K. Mortality, pathological findings and causes of death in the de Lange syndrome. Acta Paediatr Scand 1985;74(5):765-9.
7-Farhoud DD. Cornelia de Lange syndrome: A case report. Iran J pediatrics 1985;1(1):88- 96.
8-Ahmadzadeh A. Cornelia de Lange. Iranian Journal of pediatrics 1992;4(15):221- 98.
9-Van Allen MI, Flippi G, Siegel-Bartelt J, Yong SL, McGillivray B, Zuker RM, et al. Clinical variability within Brachmann- de Lange syndrome: A proposed classification syndrome. Am J Med Genet 1993;47(7):947- 58.
10- Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T. NIPBL, encoding a homology of fungal Scc2- type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet 2004;36(6):636-41.
11- Baynam G, Goldblatt J, Walpole I. Deletion of 8P23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter? A further locus for Cornelia de Lange syndrome. Am J Med Genet A 2008;146A(12):1565-70.
12- Feingold M, Lin AE. Familial Brachmann- de Lange syndrome: further evidence for autosomal dominant inheritance and review of the lilerature. Am J Med Genet 1993;47(7):1064-7.
13- Liu J, Krantz ID. Cornelia de Lange syndrome, Cohesin, and beyond. Clin Genet 2009;76(4):303-14.
14- Park KH, Lee ST, Ki CS, Byun SY. Cornelia de Lange Syndrome with NIPBL Gene Mutation: A Case Report. J Korean Med Sci 2010;25(12):1821-3.
15- Kim J, Kim EY, Lee JS, Lee WS, Kim HN. Temporal bone CT findings in Cornelia de Lange syndrome. AJNR Am J Neuroradiol 2008;29(3):569-73.
16- Aitken DA, Ireland M, Berry E, Crossley JA, Macri JN, Burn J, et al. Second-trimester pregnancy associated plasma protein -A levels are reduced in Cornelia de Lange syndrome pregnancies. Prenat Diagn 1999;19(8): 706- 10.