Fibular aplasia tibial campomelia and oligosyndactyly a further patient with a 2 year follow up
Yazarlar (5)
Samsun Maternity And Child Health Hospital, Türkiye
Baylor College Of Medicine, Amerika Birleşik Devletleri
Baylor College Of Medicine, Amerika Birleşik Devletleri
Prof. Dr. Erkan GÖKÇE
Tokat Gaziosmanpaşa Üniversitesi, Türkiye
Ondokuz Mayis Üniversitesi, Türkiye
| Makale Türü | Özgün Makale |
| Makale Alt Türü | SSCI, AHCI, SCI, SCI-Exp dergilerinde yayınlanan tam makale |
| Dergi Adı | Clinical Dysmorphology |
| Dergi ISSN | 0962-8827 Wos Dergi Scopus Dergi |
| Dergi Tarandığı Indeksler | SCI-Expanded |
| Dergi Grubu | Q4 |
| Makale Dili | İngilizce |
| Basım Tarihi | 01-2014 |
| Cilt No | 23 |
| Sayı | 4 |
| Sayfalar | 121 / 126 |
| DOI Numarası | 10.1097/MCD.0000000000000051 |
| Özet |
| Investigations Fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome (OMIM 246570) is an extremely rare syndrome first described by Hecht and Scott (1981). Courtens et al.(2005), reporting a further case and comparing it with earlier reports of similar conditions (Hecht and Scott, 1981; Capece et al., 1994; Huber et al., 2003), proposed the name FATCO as all cases had fibular aplasia, tibial campomelia, and oligosyndactyly in common. Individuals with FATCO showed shortening and anterior bowing of the lower limb at the distal third of the tibia with overlying soft tissue dimpling, oligodactyly of the foot, and oligosyndactyly of the hand. The etiology of the syndrome is currently unknown. The syndrome is usually sporadic, but autosomal dominant inheritance has also been proposed (Bieganski et al., 2012). We report the prenatal and postnatal findings in a further affected individual during … |
| Anahtar Kelimeler |
BM Sürdürülebilir Kalkınma Amaçları
| Atıf Sayıları | |
| WoS | 14 |
| SCOPUS | 10 |
| Google Scholar | 19 |