Fitzsimmons J S, Fitzsimmons E M, Guibert P R, Zaldua V, Dodd K L
Clin Genet. 1985 Oct;28(4):284-95. doi: 10.1111/j.1399-0004.1985.tb00402.x.
We present 2 families with 4 individuals suffering from congenital cutis laxa. Family A has a single affected male child with developmental delay and ligamentous laxity, making this only the second male of the total 15 patients so far reported with this particular syndrome. Family B has 3 affected males, 2 of whom have significant involvement of other systems. Only one of the 4 affected children had very obvious loose skin folds and dependency on this clinical feature alone could result in under-diagnosis of this disease. The clinical features and family pedigree information suggests recessive inheritance in Family B but the mode of inheritance in Family A is inconclusive.
我们报告了2个家庭，其中4名个体患有先天性皮肤松弛症。A家庭有一名受影响的男童，伴有发育迟缓及韧带松弛，这使其成为迄今为止报道的总共15例患有该特定综合征患者中的第二个男性患者。B家庭有3名受影响男性，其中2人有其他系统的显著受累情况。4名受影响儿童中只有1人有非常明显的皮肤松弛褶皱，仅依据这一临床特征可能导致该病诊断不足。临床特征和家系信息提示B家庭为隐性遗传，但A家庭的遗传模式尚无定论。
