PEDIATRICS Vol. 25 No. 5 May 1960, pp. 872-877
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MARFAN'S SYNDROME (ARACHNODACTYLY)

Observation of a Patient from Birth Until Death at 18 Years

Jerome L. Kohn M.D.1 and Lotte Strauss M.D.2

1 Department of Pediatrics, Mount Sinai Hospital, New York
2 Department of Pathology, Mount Sinai Hospital, New York

Close observation of a patient with Marfan's syndrome throughout the duration of his life (18 years) provided an unusual opportunity to study the clinical evolution of the syndrome from birth. The diagnosis was confirmed by necropsy which showed advanced structural alterations of the cardiovascular system unsuspected during life, as well as nonspecific skeletal changes.

Even in the absence of a familial history the syndrome should be suspected when arachnodactyly and excessive length are noted at birth or in the presence of accelerated longitudinal growth early in life.

Notwithstanding early recognition and restriction of physical activity, the evolution of the disease could not be modified, or fatal complications prevented. While it is understood that the prognosis varies in subjects with this affliction, experience with this patient emphasizes that even in a subject with minimal or no cardiovascular symptoms the prognosis must be guarded.

The Marfan syndrome may be a more common hereditary disorder than is usually realized. Present trends in research in this disease give hope that the underlying metabolic disorder may eventually be clarified. It is conceivable that a test may be developed which would not only offer a much needed diagnostic tool, but a valuable aid in genetic investigation of this disorder.

Submitted on August 5, 1959
Accepted on October 21, 1959




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