Roberts-SC phocomelia syndrome: Case report Roberts-SC fokomeli sendromu: Olgu sunumu
Haseki Tip Bulteni, cilt.50, sa.2, ss.66-68, 2012 (Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 50 Sayı: 2
- Basım Tarihi: 2012
- Dergi Adı: Haseki Tip Bulteni
- Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.66-68
- Anahtar Kelimeler: Congenital anomaly, Phocomelia, Roberts-SC syndrome
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Roberts-SC phocomelia syndrome is an autosomal recessive inherited malformation characterized by symmetric limb defects, craniofacial abnormalities, prenatal and postnatal growth retardation and mental retardation. A premature baby born at 34 weeks gestation was admitted to Erzurum Nenehatun Obstetrics and Gynecology Hospital Neonate Unit due to congenital anomaly, growth retardation, cleft palate, hypoplasia of the nose, low-set ears, and bilateral shortness of the forearms. Here, we present a rare case of Roberts-SC phocomelia syndrome.