BOWERS D
Can Med Assoc J. 1963 Aug 24;89(8):337-40.
Marfan's syndrome has been transmitted by a single pleiotropic autosomal gene through six generations of a Canadian family. At least 42 members of this family have been affected to date. The natural history of this inherited affliction in this family supports the hypothesis that Marfan's syndrome is an abiotropic disorder of the connective tissues. Premature degeneration of the connective tissues is responsible for the serious ocular and cardiovascular complications of Marfan's syndrome, for the shortened life span of affected individuals, and indirectly, for the economic distress of affected members of this family. Because no definitive treatment is available for Marfan's syndrome, an educational approach to the restriction of child-bearing by affected individuals is proposed.
马凡氏综合征通过一个单一的多效性常染色体基因在一个加拿大家庭中遗传了六代。到目前为止，这个家族至少有42名成员受到影响。这个家族中这种遗传性疾病的自然病史支持了这样一种假设，即马凡氏综合征是一种结缔组织营养障碍性疾病。结缔组织的过早退化是马凡氏综合征严重眼部和心血管并发症的原因，也是受影响个体寿命缩短的原因，并且间接地导致了这个家族中受影响成员的经济困境。由于目前尚无针对马凡氏综合征的确切治疗方法，因此建议采取一种教育方法，以限制受影响个体生育。
