Agha A, Sakati N O, Higginbottom M C, Jones K L, Bay C, Nyhan W L
Acta Paediatr Scand. 1978 Nov;67(6):775-80. doi: 10.1111/j.1651-2227.1978.tb16260.x.
Two infants are described with congenital cutis laxa. They represent two distinct disorders. In the first, congenital cutis laxa is associated with a generalized disorder of elastic tissue in which there may be diaphragmatic or other hernias, diverticula of the gastrointestinal or urinary tract and infantile emphysema. The disease is fatal often within the first year. In the second, congenital cutis laxa is associated with widely patent anterior fontanel, a variety of malformations, and retarded growth and development. Recognition of these distinct syndromes in the newborn period and their recessive inheritance permit realistic discussion of the prognosis which is very different from the benign dominant forms of cutis laxa.
本文描述了两名患有先天性皮肤松弛症的婴儿。他们代表两种不同的疾病。第一种情况下,先天性皮肤松弛症与弹性组织的全身性疾病相关,可能存在膈疝或其他疝、胃肠道或泌尿道憩室以及婴儿肺气肿。这种疾病通常在第一年就会致命。第二种情况下,先天性皮肤松弛症与前囟门广泛开放、多种畸形以及生长发育迟缓有关。在新生儿期识别这些不同的综合征及其隐性遗传,有助于对预后进行现实的讨论,这与良性显性形式的皮肤松弛症大不相同。