Horn D, Müller D, Thiele H, Kunze J
Institut für Humangenetik und Kinderklinik, Virchow-Klinikum der Humboldt-Universität, Berlin, Germany.
Clin Dysmorphol. 1997 Oct;6(4):323-8. doi: 10.1097/00019605-199710000-00004.
Two brothers with congenital microcephaly, growth and mental retardation, flexion contractures, dorsal edema of hands and feet, and ichthyotic skin changes are described. Mild manifestations of Neu-Laxova syndrome have to be considered but long survival and only mild intrauterine growth retardation not described in this syndrome may be evidence of a different condition.
本文描述了两兄弟患有先天性小头畸形、生长和智力发育迟缓、屈曲挛缩、手足背水肿以及鱼鳞病样皮肤改变。需考虑Neu-Laxova综合征的轻度表现,但长期存活且仅有轻度宫内生长迟缓(该综合征未描述此情况)可能提示存在不同病症。