✦ LIBER ✦

Another case of Ritscher-Schinzel-syndrome: Craniocerebello-cardiac dysplasia (3C-syndrome) with associated bilateral colobomata

✍ Scribed by H. Wörle; M. A. G. Lewin; M. Holder; C. K. Bastanier; B. Köhler

Publisher: Springer
Year: 1994
Tongue: English
Weight: 249 KB
Volume: 153
Category: Article
ISSN: 0340-6997
DOI: 10.1007/bf01959229

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Ritscher–Schinzel (cranio-cerebello-card

Ritscher–Schinzel (cranio-cerebello-cardiac, 3C) syndrome: Report of four new cases with renal involvement

✍ Mohammed Zein Seidahmed; Fowzan S. Alkuraya; Meeralebbae Shaheed; Mohammed Al Za 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 599 KB

## Abstract Ritscher–Schinzel (cranio‐cerebello‐cardiac, 3C) syndrome is a multiple congenital anomaly syndrome that is considered to be autosomal recessive although no genetic defect has yet been identified. In a consanguineous Saudi family, we have identified four patients who meet the diagnostic

Ritscher-Schinzel cranio-cerebello-cardi

Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: Report of four new cases and review

✍ Leonardi, Michael L. ;Pai, G. Shashidhar ;Wilkes, Beth ;Lebel, Robert Roger 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 127 KB 👁 3 views

Ritscher-Schinzel syndrome, also known as the 3C syndrome, is a rare, autosomal recessive syndrome characterized by craniofacial, cerebellar, and cardiac anomalies. Cardiac manifestations include ventricular septal defect, atrial septal defect, tetralogy of Fallot, double outlet right ventricle, hyp

Subtelomeric deletions of chromosome 6p:

Subtelomeric deletions of chromosome 6p: Molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher–Schinzel (3C) syndrome

✍ Cheryl DeScipio; Lori Schneider; Terri L. Young; Nora Wasserman; Dinah Yaeger; F 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 323 KB 👁 3 views