A 16-Day-Old Infant with a Clinical Diagnosis of Classical Cornelia de Lange Syndrome
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...
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| Format: | Article |
| Language: | English |
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Wiley
2020-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2020/6482938 |
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| author | Pamela Rodríguez Karla Asturias |
| author_facet | Pamela Rodríguez Karla Asturias |
| author_sort | Pamela Rodríguez |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-2857ae5219354315b3cac4401c85db6a |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-2857ae5219354315b3cac4401c85db6a2025-02-03T06:06:44ZengWileyCase Reports in Pediatrics2090-68032090-68112020-01-01202010.1155/2020/64829386482938A 16-Day-Old Infant with a Clinical Diagnosis of Classical Cornelia de Lange SyndromePamela Rodríguez0Karla Asturias1Universidad Francisco Marroquín School of Medicine, Guatemala City 01010, GuatemalaUniversidad Francisco Marroquín School of Medicine, Guatemala City 01010, GuatemalaCornelia 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.http://dx.doi.org/10.1155/2020/6482938 |
| spellingShingle | Pamela Rodríguez Karla Asturias A 16-Day-Old Infant with a Clinical Diagnosis of Classical Cornelia de Lange Syndrome Case Reports in Pediatrics |
| title | A 16-Day-Old Infant with a Clinical Diagnosis of Classical Cornelia de Lange Syndrome |
| title_full | A 16-Day-Old Infant with a Clinical Diagnosis of Classical Cornelia de Lange Syndrome |
| title_fullStr | A 16-Day-Old Infant with a Clinical Diagnosis of Classical Cornelia de Lange Syndrome |
| title_full_unstemmed | A 16-Day-Old Infant with a Clinical Diagnosis of Classical Cornelia de Lange Syndrome |
| title_short | A 16-Day-Old Infant with a Clinical Diagnosis of Classical Cornelia de Lange Syndrome |
| title_sort | 16 day old infant with a clinical diagnosis of classical cornelia de lange syndrome |
| url | http://dx.doi.org/10.1155/2020/6482938 |
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