Case Report: Atypical Cornelia de Lange Syndrome [version 2; referees: 1 approved, 2 approved with reservations]
Cornelia de Lange Syndrome (CdLS) (also called Bushy Syndrome or Amsterdam dwarfism), is a genetic disorder that can lead to several alterations. This disease affects both physical and neuropsychiatric development. The various abnormalities include facial dysmorphia (arched eyebrows, synophrys, depr...
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| Format: | Article |
| Language: | English |
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F1000 Research Ltd
2015-05-01
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| Series: | F1000Research |
| Subjects: | |
| Online Access: | http://f1000research.com/articles/3-33/v2 |
| _version_ | 1819011065053184000 |
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| author | Vito Leanza Gabriella Rubbino Gianluca Leanza |
| author_facet | Vito Leanza Gabriella Rubbino Gianluca Leanza |
| author_sort | Vito Leanza |
| collection | DOAJ |
| description | Cornelia de Lange Syndrome (CdLS) (also called Bushy Syndrome or Amsterdam dwarfism), is a genetic disorder that can lead to several alterations. This disease affects both physical and neuropsychiatric development. The various abnormalities include facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, and gastrointestinal alterations. The prevalence of this syndrome is approximately one per 15,000. Ultrasound is not the perfect means to diagnose CdLS, however, many abnormalities can be detected prenatally by scrupulous image observation. We report an atypical CdLS case characterized by increased nuchal translucency in the first trimester, normal karyotype, saddle nose, micrognathia with receding jaw, low set ears, facies senilis, arthrogryposis of the hands, absence of the Aranzio ductus venous, dilatation of gallbladder and bowel, a unique umbilical artery, increased volume of amniotic fluid, and intrauterine growth retardation ending with the interruption of pregnancy. |
| first_indexed | 2024-12-21T01:22:13Z |
| format | Article |
| id | doaj.art-180e3e74613d4c2484094608d84d2489 |
| institution | Directory Open Access Journal |
| issn | 2046-1402 |
| language | English |
| last_indexed | 2024-12-21T01:22:13Z |
| publishDate | 2015-05-01 |
| publisher | F1000 Research Ltd |
| record_format | Article |
| series | F1000Research |
| spelling | doaj.art-180e3e74613d4c2484094608d84d24892022-12-21T19:20:37ZengF1000 Research LtdF1000Research2046-14022015-05-01310.12688/f1000research.3-33.v24647Case Report: Atypical Cornelia de Lange Syndrome [version 2; referees: 1 approved, 2 approved with reservations]Vito Leanza0Gabriella Rubbino1Gianluca Leanza2Surgery Department, Obstetrics and Gynecologic Unit “Ospedale Santo Bambino”, Catania University, Catania, ItalySurgery Department, Obstetrics and Gynecologic Unit “Ospedale Santo Bambino”, Catania University, Catania, ItalySurgery Department, Obstetrics and Gynecologic Unit “Ospedale Santo Bambino”, Catania University, Catania, ItalyCornelia de Lange Syndrome (CdLS) (also called Bushy Syndrome or Amsterdam dwarfism), is a genetic disorder that can lead to several alterations. This disease affects both physical and neuropsychiatric development. The various abnormalities include facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, and gastrointestinal alterations. The prevalence of this syndrome is approximately one per 15,000. Ultrasound is not the perfect means to diagnose CdLS, however, many abnormalities can be detected prenatally by scrupulous image observation. We report an atypical CdLS case characterized by increased nuchal translucency in the first trimester, normal karyotype, saddle nose, micrognathia with receding jaw, low set ears, facies senilis, arthrogryposis of the hands, absence of the Aranzio ductus venous, dilatation of gallbladder and bowel, a unique umbilical artery, increased volume of amniotic fluid, and intrauterine growth retardation ending with the interruption of pregnancy.http://f1000research.com/articles/3-33/v2Pregnancy, Labor, Delivery & Postpartum Care |
| spellingShingle | Vito Leanza Gabriella Rubbino Gianluca Leanza Case Report: Atypical Cornelia de Lange Syndrome [version 2; referees: 1 approved, 2 approved with reservations] F1000Research Pregnancy, Labor, Delivery & Postpartum Care |
| title | Case Report: Atypical Cornelia de Lange Syndrome [version 2; referees: 1 approved, 2 approved with reservations] |
| title_full | Case Report: Atypical Cornelia de Lange Syndrome [version 2; referees: 1 approved, 2 approved with reservations] |
| title_fullStr | Case Report: Atypical Cornelia de Lange Syndrome [version 2; referees: 1 approved, 2 approved with reservations] |
| title_full_unstemmed | Case Report: Atypical Cornelia de Lange Syndrome [version 2; referees: 1 approved, 2 approved with reservations] |
| title_short | Case Report: Atypical Cornelia de Lange Syndrome [version 2; referees: 1 approved, 2 approved with reservations] |
| title_sort | case report atypical cornelia de lange syndrome version 2 referees 1 approved 2 approved with reservations |
| topic | Pregnancy, Labor, Delivery & Postpartum Care |
| url | http://f1000research.com/articles/3-33/v2 |
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