Trisomy 18 with multiple rare malformations: report of one case
Pen-Hua Su1, Jia-Yuh Chen, Chih-Hao Hsu
1Institute of Medicine, Chung Shan Medical University, Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan.
Acta Paediatrica Taiwanica = Taiwan Er Ke Yi Xue Hui Za Zhi
|February 8, 2008
Summary
Trisomy 18 syndrome, a common genetic disorder, can present with rare Dandy-Walker malformation (DWM). This case highlights a newborn with Trisomy 18 and multiple congenital anomalies, including DWM.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Neurology
Background:
- Trisomy 18 syndrome (Edwards syndrome) is a frequent chromosomal abnormality associated with numerous congenital anomalies.
- Dandy-Walker malformation (DWM) is a rare congenital brain malformation affecting the cerebellum and fourth ventricle.
Observation:
- This report details a rare case of a female newborn diagnosed with Trisomy 18 (47,XX,+18).
- The infant presented with intrauterine growth retardation and a complex spectrum of congenital abnormalities.
- Notably, the patient exhibited Dandy-Walker malformation (DWM), a condition infrequently reported in conjunction with Trisomy 18.
Findings:
- The karyotype confirmed Trisomy 18, indicating an extra copy of chromosome 18.
- The infant displayed multiple malformations, including craniofacial anomalies, tracheoesophageal fistula, esophageal atresia, limb abnormalities (absent radius and thumb, short ulna), cardiac defects (ventricular septal defect, coarctation of the aorta, patent ductus arteriosus), and gastrointestinal anomalies (Meckel's diverticulum, ectopic pancreas).
- The co-occurrence of DWM with Trisomy 18 and this extensive list of anomalies is exceptionally rare.
Implications:
- This case underscores the broad phenotypic variability of Trisomy 18 syndrome.
- It emphasizes the importance of thorough diagnostic evaluation for rare co-occurring malformations in chromosomal disorders.
- Further research may elucidate potential genetic or developmental pathways linking Trisomy 18 and DWM.
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