Clinical Genetics · 1980 · 25 citations · 5 references
MedicineCardiologyPediatricsClinical CardiologyHuman GeneticsCardiovascular DiseaseCongenital Heart DiseaseCongenital Heart Disease GeneticsMendelian Cardiovascular DisordersMitral Valve DiseaseValvular Heart DiseaseCongenital Cardiovascular MalformationsCongenital Pulmonic Valve DiseaseCongenital Valve DiseaseCongenital Valvular Heart DiseaseHeart Valve MalformationsValve AbnormalitiesVascular Involvement
The Cohen Syndrome is a rare genetic disorder consisting of obesity, mental retardation, limb abnormalities and characteristic craniofacial appearance. Of the seven previously reported patients, none had any cardio-vascular involvement. This report describes an affected Jewish female, who, in addition to the usual malformations, has a floppy mitral valve.
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Recognizable Patterns of Human Malformation
R. J. Robinson · Archives of Disease in Childhood · 1977 · 350 citations · Full text
Medicine, Pharmacotherapy, Surgery +14
Bryan D. Hall, David W. Smith · The Journal of Pediatrics · 1972 · 205 citations
Confirmation of the Cohen syndrome
John C. Carey, Bryan D. Hall · The Journal of Pediatrics · 1978 · 81 citations
Margaret L. Bauman · American journal of diseases of children · 1973 · 49 citations