3C syndrome

American Journal of Medical Genetics, Part A

Volumn 152, Issue 4, 2010, Pages 1026-1027

  Craft, Emily ^a   Wildig, Catherine E ^b   Crow, Yanick J ^c  

^a CHAPEL ALLERTON HOSPITAL   (United Kingdom)

^b ST LUKE S HOSPITAL   (United Kingdom)

^c UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; CASE REPORT; CEREBELLUM AGENESIS; CHILD; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; DIAGNOSTIC IMAGING; FACE DYSMORPHIA; FEMALE; GROWTH RETARDATION; HEART VENTRICLE SEPTUM DEFECT; HUMAN; IMAGE ANALYSIS; JOINT CONTRACTURE; LETTER; MALE; MICROCEPHALY; MICROGNATHIA; MITRAL VALVE STENOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; RITSCHER SCHINZEL CRANIOCEREBELLOCARDIAC SYNDROME; SYMPTOM; SYNDROME;

ABNORMALITIES, MULTIPLE; ADOLESCENT; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; PREGNANCY; SYNDROME;

EID: 77950444581     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32820     Document Type: Letter

References (5)

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2. Orstavik KH, Betchensteen AG, Fugelseth D, Orderud W. 1998. Sibs with Ritscher-Schinzel (3C) syndrome and anal malformations. Am J Med Genet 75:300-303. (Pubitemid 28076859)
3. Ritscher D, Schinzel A, Boltshauser E, Briner J, Arbenz U, Sigg P. 1987. Dandy-Walker (Like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: A new syndrome? Am J Med Genet 26:481-491.
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5. Zankl A, Gungor T, Schinzel A. 2003. Cranio-cerebello-cardiac (3C) Syndrome: Follow-up study of the original patient. Am J Med Genet Part A 118A:55-59. (Pubitemid 37063971)