The Wiedemann-Rautenstrauch or neonatal progeroid syndrome: Report of a patient with hypospadias
Genetic Counseling, cilt.20, sa.4, ss.367-371, 2009 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 20 Sayı: 4
- Basım Tarihi: 2009
- Dergi Adı: Genetic Counseling
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.367-371
- Anahtar Kelimeler: Wiedemann-Rautenstrauch syndrome, Hypospadias
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
The Wiedemann-Rautenstrauch or neonatal progeroid syndrome: report of a patient with hypospadias: Wiedemann-Rautenstrauch syndrome is known as a neonatal progeroid syndrome, with only few published case reports. The syndrome is characterized by progeroid appearance (triangular old-looking face with relatively large skull, prominent veins especially of the scalp, sparse scalp hair, and large anterior fontanelle), decreased subcutaneous fat (giving the clinical appearance of prominent veins and muscles), hypotrichosis, macrocephaly, and natal teeth. We report a new additional patient with a new feature of the hypospadias, not previously described, to our knowledge.