Trisomy 18 syndrome: Case report Trizomi 18 Sendromu: Olgu Sunumu
Medical Journal of Bakirkoy, cilt.8, sa.1, ss.44-46, 2012 (Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 8 Sayı: 1
- Basım Tarihi: 2012
- Doi Numarası: 10.5350/btdmjb201208108
- Dergi Adı: Medical Journal of Bakirkoy
- Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.44-46
- Anahtar Kelimeler: Trisomy 18 syndrome, newborn, pes equinovarus
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
In trisomy 18 (Edward's) syndrome, which is one of the most common chromosomal disorders, most of the cases are lost during their first year of life because of severe cardiac pathologies. A female premature newborn with a weight of 1100 g was referred to our clinic by dyspnea. At the physical examination, low ears, high arched palate, migrognatia, short and webbed neck, microcephaly, flexed hand fingers and pes equinovarus of foot were present. At the echocardiography examination, patent ductus arteriosus has been detected. Herein we presented this case with Edward's syndrome with clear clinical evidence in newborn period.