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A 16-Day-Old Infant with a Clinical Diagnosis of Classical Cornelia de Lange Syndrome
Pamela Rodríguez1, Karla Asturias1
1Universidad Francisco Marroquín School of Medicine, Guatemala City 01010, Guatemala.
Insights
Cornelia de Lange syndrome (CdLS) is a rare genetic disorder with congenital anomalies. This case report highlights clinical diagnosis criteria for CdLS in infants when genetic testing is unavailable.
Area of Science:
- Genetics
- Pediatrics
- Medical Case Reports
Background:
- Cornelia de Lange syndrome (CdLS) is a rare genetic disorder.
- Characterized by congenital anomalies, including limb defects, and distinct facial features.
- Caused by mutations in chromatin regulator genes, often involving the cohesin complex.
Observation:
- Presents a case of a 16-day-old male infant.
- Clinical diagnosis of classical CdLS was made based on characteristic features.
- Infant exhibited typical craniofacial features and growth deficiency.
Findings:
- CdLS diagnosis relies on clinical criteria when molecular genetic testing is inaccessible or costly.
- The case emphasizes the importance of recognizing clinical signs for early CdLS diagnosis.
- Highlights the phenotypic spectrum of CdLS in neonates.
Implications:
- Clinical diagnostic criteria are crucial for managing CdLS, especially in resource-limited settings.
- Early diagnosis facilitates timely intervention and management of associated complications.
- Further research into cost-effective diagnostic methods for CdLS is warranted.
Abstract:
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.
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