Publications

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator

December 7, 2016

Lumaka A, Cosemans N, Lulebo Mampasi A, Mubungu G, Mvuama N, Lubala T, Mbuyi-Musanzayi S, Breckpot J, Holvoet M, De Ravel T, Van Buggenhout G, Peeters H, Donnai D, Mutesa L, Verloes A, Lukusa Tshilobo P, Devriendt K., Clin Genet. 2016 Dec 7. doi: 10.1111/cge.12948 Abstract: The evaluation of facial dysmorphism is a critical step […]

The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes.

April 26, 2016

Gripp KW, Baker L, Telegrafi A, Monaghan KG. Am J Med Genet A. 2016 Apr 26. doi: 10.1002/ajmg.a.37672. Abstract The genetic basis of numerous intellectual disability (ID) syndromes has recently been identified by applying exome analysis on a research or clinical basis. There is significant clinical overlap of biologically related syndromes, as exemplified by Nicolaides-Baraitser […]

Williams–Beuren syndrome: pitfalls for diagnosis in limited resources setting

February 12, 2016

Lumaka A, Lukoo R, Mubungu G, Lumpala P, Mbayabo G, Mupuala A, Lukusa Tshilobo P, Devriendt K., Clinical Case Reports 2016 4(3):294-297. Abstract Patients with Williams–Beuren Syndrome can be recognized clinically, given the characteristic dysmorphism, intellectual disability, and behavior. We report on a Congolese boy with typical WBS facial characteristics. He suffered meningitis and coma […]

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