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Facial Diagnosis of Mild and Variant CdLS: Insights From a Dysmorphologist Survey
Journal article   Open access   Peer reviewed

Facial Diagnosis of Mild and Variant CdLS: Insights From a Dysmorphologist Survey

Sarika Rohatgi, Dinah Clark, Antonie D. Kline, Laird G. Jackson, Juan Pie, Victoria Siu, Feliciano J. Ramos, Ian D. Krantz and Matthew A. Deardorff
American journal of medical genetics. Part A, v 152A(7), pp 1641-1653
01 Jul 2010
DOI: https://doi.org/10.1002/ajmg.a.33441
PMID: 20583156
Featured in Collection :   UN Sustainable Development Goals @ Drexel
url
https://europepmc.org/articles/pmc4133091View
Accepted (AM) Open Open Access (License Unspecified)

Abstract

Brachmann–de Lange syndrome Cornelia de Lange syndrome dysmorphology facial features facies mild NIPBL severe SMC1 SMC1A SMC1L1 SMC3 survey
Cornelia de Lange syndrome (CdLS) is a dominant disorder with classic severe forms and milder atypical variants. Central to making the diagnosis is identification of diagnostic facial features. With the recognition that patients with SMC1A and SMC3 mutations have milder, atypical features, we surveyed 65 dysmorphologists using facial photographs from 32 CdLS patients with the goals of (1) Illustrating examples of milder patients with SMC1A mutations and (2) Obtaining objective data to determine which facial features were useful and misleading in making a diagnosis of CdLS. Clinicians were surveyed whether the patient had CdLS or another diagnosis, the certainty of response and the clinical features used to support each response. Using only facial photographs, an average of 24 cases (75%) were accurately diagnosed per clinician. Correct diagnoses were made in 90% of classic CdLS and 87% of non-CdLS cases, however, only 54% of mild or variant CdLS were correctly diagnosed by respondents. We confirmed that CdLS is most accurately diagnosed in childhood and the diagnosis becomes increasingly difficult with age. This survey demonstrated that emphasis is placed on the eyebrows, nasal features, prominent upper lip and micrognathia. In addition, the presence of fuller, atypical eyebrows, a prominent nasal bridge and significant prognathism with age dissuaded survey takers from arriving at a diagnosis of CdLS in individuals with mild NIPBL and SMC1A mutations. This work underscores the difficulty in diagnosing patients with mild and variant CdLS and serves to objectively classify both useful and misleading features in the diagnosis of CdLS.

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Web of Science research areas
Genetics & Heredity
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