A 16-Day-Old Infant with a Clinical Diagnosis of Classical Cornelia de Lange Syndrome
Joint Authors
Rodríguez, Pamela
Asturias, Karla
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-04-09
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Cornelia de Lange syndrome (CdLS) is a rare syndromic genetic disorder characterized by multiple congenital anomalies with upper limb reduction defects, along with cardiac, gastrointestinal, and genitourinary defects.
It is caused by genetic variations in the chromatin regulator genes, most commonly, the cohesin complex.
Even though molecular genetic testing is highly recommended to confirm the diagnosis, high costs and unavailability in some settings are significant setbacks, and clinical criteria could be used.
The typical craniofacial features include generalized hirsutism, synophrys, microbrachycephaly, highly arched eyebrows, and long eyelashes, along with height and weight below the 5th percentile.
In this paper, we present a case of a 16-day-old male infant in whom a clinical diagnosis of classical CdLS was made.
American Psychological Association (APA)
Rodríguez, Pamela& Asturias, Karla. 2020. A 16-Day-Old Infant with a Clinical Diagnosis of Classical Cornelia de Lange Syndrome. Case Reports in Pediatrics،Vol. 2020, no. 2020, pp.1-4.
https://search.emarefa.net/detail/BIM-1150663
Modern Language Association (MLA)
Rodríguez, Pamela& Asturias, Karla. A 16-Day-Old Infant with a Clinical Diagnosis of Classical Cornelia de Lange Syndrome. Case Reports in Pediatrics No. 2020 (2020), pp.1-4.
https://search.emarefa.net/detail/BIM-1150663
American Medical Association (AMA)
Rodríguez, Pamela& Asturias, Karla. A 16-Day-Old Infant with a Clinical Diagnosis of Classical Cornelia de Lange Syndrome. Case Reports in Pediatrics. 2020. Vol. 2020, no. 2020, pp.1-4.
https://search.emarefa.net/detail/BIM-1150663
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1150663