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Cornelia de Lange syndrome in diverse populations.

Publication ,  Journal Article
Dowsett, L; Porras, AR; Kruszka, P; Davis, B; Hu, T; Honey, E; Badoe, E; Thong, M-K; Leon, E; Girisha, KM; Shukla, A; Nayak, SS; Megarbane, A ...
Published in: Am J Med Genet A
February 2019

Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes-NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The characteristic facial dysmorphisms include microcephaly, arched eyebrows, synophrys, short nose with depressed bridge and anteverted nares, long philtrum, thin lips, micrognathia, and hypertrichosis. Most affected individuals have intellectual disability, growth deficiency, and upper limb anomalies. This study looked at individuals from diverse populations with both clinical and molecularly confirmed diagnoses of CdLS by facial analysis technology. Clinical data and images from 246 individuals with CdLS were obtained from 15 countries. This cohort included 49% female patients and ages ranged from infancy to 37 years. Individuals were grouped into ancestry categories of African descent, Asian, Latin American, Middle Eastern, and Caucasian. Across these populations, 14 features showed a statistically significant difference. The most common facial features found in all ancestry groups included synophrys, short nose with anteverted nares, and a long philtrum with thin vermillion of the upper lip. Using facial analysis technology we compared 246 individuals with CdLS to 246 gender/age matched controls and found that sensitivity was equal or greater than 95% for all groups. Specificity was equal or greater than 91%. In conclusion, we present consistent clinical findings from global populations with CdLS while demonstrating how facial analysis technology can be a tool to support accurate diagnoses in the clinical setting. This work, along with prior studies in this arena, will assist in earlier detection, recognition, and treatment of CdLS worldwide.

Duke Scholars

Published In

Am J Med Genet A

DOI

EISSN

1552-4833

Publication Date

February 2019

Volume

179

Issue

2

Start / End Page

150 / 158

Location

United States

Related Subject Headings

  • Young Adult
  • Racial Groups
  • Phenotype
  • Mutation
  • Male
  • Intellectual Disability
  • Infant, Newborn
  • Infant
  • Image Processing, Computer-Assisted
  • Humans
 

Citation

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Dowsett, L., Porras, A. R., Kruszka, P., Davis, B., Hu, T., Honey, E., … Krantz, I. D. (2019). Cornelia de Lange syndrome in diverse populations. Am J Med Genet A, 179(2), 150–158. https://doi.org/10.1002/ajmg.a.61033
Dowsett, Leah, Antonio R. Porras, Paul Kruszka, Brandon Davis, Tommy Hu, Engela Honey, Eben Badoe, et al. “Cornelia de Lange syndrome in diverse populations.Am J Med Genet A 179, no. 2 (February 2019): 150–58. https://doi.org/10.1002/ajmg.a.61033.
Dowsett L, Porras AR, Kruszka P, Davis B, Hu T, Honey E, et al. Cornelia de Lange syndrome in diverse populations. Am J Med Genet A. 2019 Feb;179(2):150–8.
Dowsett, Leah, et al. “Cornelia de Lange syndrome in diverse populations.Am J Med Genet A, vol. 179, no. 2, Feb. 2019, pp. 150–58. Pubmed, doi:10.1002/ajmg.a.61033.
Dowsett L, Porras AR, Kruszka P, Davis B, Hu T, Honey E, Badoe E, Thong M-K, Leon E, Girisha KM, Shukla A, Nayak SS, Shotelersuk V, Megarbane A, Phadke S, Sirisena ND, Dissanayake VHW, Ferreira CR, Kisling MS, Tanpaiboon P, Uwineza A, Mutesa L, Tekendo-Ngongang C, Wonkam A, Fieggen K, Batista LC, Moretti-Ferreira D, Stevenson RE, Prijoles EJ, Everman D, Clarkson K, Worthington J, Kimonis V, Hisama F, Crowe C, Wong P, Johnson K, Clark RD, Bird L, Masser-Frye D, McDonald M, Willems P, Roeder E, Saitta S, Anyane-Yeoba K, Demmer L, Hamajima N, Stark Z, Gillies G, Hudgins L, Dave U, Shalev S, Siu V, Ades A, Dubbs H, Raible S, Kaur M, Salzano E, Jackson L, Deardorff M, Kline A, Summar M, Muenke M, Linguraru MG, Krantz ID. Cornelia de Lange syndrome in diverse populations. Am J Med Genet A. 2019 Feb;179(2):150–158.
Journal cover image

Published In

Am J Med Genet A

DOI

EISSN

1552-4833

Publication Date

February 2019

Volume

179

Issue

2

Start / End Page

150 / 158

Location

United States

Related Subject Headings

  • Young Adult
  • Racial Groups
  • Phenotype
  • Mutation
  • Male
  • Intellectual Disability
  • Infant, Newborn
  • Infant
  • Image Processing, Computer-Assisted
  • Humans