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

Clinical Genetics

Volumn 92, Issue 2, 2017, Pages 166-171

  Lumaka, A ^a,b,c   Cosemans, N ^a   Lulebo Mampasi, A ^b   Mubungu, G ^b   Mvuama, N ^b   Lubala, T ^d   Mbuyi Musanzayi, S ^d   Breckpot, J ^a   Holvoet, M ^a   de Ravel, T ^a   Van Buggenhout, G ^a   Peeters, H ^a   Donnai, D ^e   Mutesa, L ^f   Verloes, A ^g   Lukusa Tshilobo, P ^a,b,c   Devriendt, K ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b UNIVERSITY OF KINSHASA   (Congo)

^c Institut National de Recherche Biomédicale   (Democratic Republic Congo)

^d UNIVERSITÉ DE LUBUMBASHI   (Congo)

^e UNIVERSITY OF MANCHESTER   (United Kingdom)

^f UNIVERSITY OF RWANDA   (Rwanda)

^g HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

Down syndrome; DR Congo; dysmorphology; Face2Gene; facial dysmorphism; gestalt

Indexed keywords

ADOLESCENT; ADULT; AFRICAN; ARTICLE; CAUCASIAN; CENTRAL AFRICA; CHILD; CONTROLLED STUDY; DOWN SYNDROME; ETHNICITY; EUROPEAN; FACE; FACE DYSMORPHIA; FEMALE; GESTALT PSYCHOLOGY; HUMAN; INTELLECTUAL IMPAIRMENT; KAPPA STATISTICS; MAJOR CLINICAL STUDY; MALE; MORPHOLOGY; PHENOTYPE; PHYSICIAN; PRIORITY JOURNAL; RECOGNITION; BLACK PERSON; CRANIOFACIAL MALFORMATION; DIAGNOSTIC IMAGING; IMAGE PROCESSING; INFANT; MULTIPLE MALFORMATION SYNDROME; MUSCLE ATROPHY; MUSCULOSKELETAL SYSTEM MALFORMATION; PATHOPHYSIOLOGY; PRESCHOOL CHILD; YOUNG ADULT;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; AFRICAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; DOWN SYNDROME; EUROPEAN CONTINENTAL ANCESTRY GROUP; FACE; FEMALE; HUMANS; IMAGE PROCESSING, COMPUTER-ASSISTED; INFANT; INTELLECTUAL DISABILITY; MALE; MUSCULAR ATROPHY; MUSCULOSKELETAL ABNORMALITIES; YOUNG ADULT;

EID: 85009455692     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12948     Document Type: Article

References (15)

1. Hennekam RC. A newborn with unusual morphology: some practical aspects. Semin Fetal Neonatal Med 2011: 16: 109–113.
2. Talbert L, Kau CH, Christou T et al. A 3D analysis of Caucasian and African American facial morphologies in a US population. J Orthod 2014: 41: 19–29.
3. Ofodile FA, Bokhari FJ, Ellis C. The black American nose. Ann Plast Surg 1993: 31: 209–218; discussion 218–209.
4. McDonald-McGinn DM, Minugh-Purvis N, Kirschner RE et al. The 22q11.2 deletion in African-American patients: an underdiagnosed population? Am J Med Genet A 2005: 134: 242–246.
5. Veerapandiyan A, Abdul-Rahman OA, Adam MP et al. Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge. Am J Med Genet A 2011: 155A: 2186–2195.
6. Schwartz CE, Phelan MC, Pulliam LH et al. Fragile X syndrome: incidence, clinical and cytogenetic findings in the black and white populations of South Carolina. Am J Med Genet 1988: 30: 641–654.
7. Moore ES, Ward RE, Wetherill LF et al. Unique facial features distinguish fetal alcohol syndrome patients and controls in diverse ethnic populations. Alcohol Clin Exp Res 2007: 31: 1707–1713.
8. Allanson JE, Cunniff C, Hoyme HE et al. Elements of morphology: standard terminology for the head and face. Am J Med Genet A 2009: 149A: 6–28.
9. Hammond P, Hutton TJ, Allanson JE et al. Discriminating power of localized three-dimensional facial morphology. Am J Hum Genet 2005: 77: 999–1010.
10. Ferry Q, Steinberg J, Webber C et al. Diagnostically relevant facial gestalt information from ordinary photos. Elife 2014: 3: e02020.
11. Gripp KW, Baker L, Telegrafi A, Monaghan KG. 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. Am J Med Genet A. 2016: 170: 1754–162.
12. Tang W, Hu J, Zhang H et al. Kappa coefficient: a popular measure of rater agreement. Shanghai Arch Psychiatry 2015: 27: 62–67.
13. Viera AJ, Garrett JM. Understanding interobserver agreement: the kappa statistic. Fam Med 2005: 37: 360–363.
14. Cohen J. Statistical Power Analysis for the Behavioral Sciences. Lawrence Erlbaum Asociates: Hilsdale, NJ, 1988.
15. Basel-Vanagaite L, Wolf L, Orin M, Larizza L, Gervasini C, Krantz ID, et al. Recognition of the Cornelia de lange syndrome phenotype with facial dysmorphology novel analysis. Clin Genet 2016: 89: 557–63.