Zerres K, Rietschel M, Rietschel E, Majewski F, Meinecke P
Institut für Humangenetik der Universität Bonn, Germany.
J Med Genet. 1992 Apr;29(4):269-71. doi: 10.1136/jmg.29.4.269.
We report on a 2 year old boy with an apparently previously undescribed multiple congenital anomaly/mental retardation syndrome characterised by postnatal short stature, postnatal microcephaly, dysmorphic face, syndactyly 2/5 of the hands and 1/4 of the feet, and brachymesophalangy of fingers 2 and 5.
我们报告了一名2岁男孩,患有一种显然此前未被描述过的多发性先天性异常/智力发育迟缓综合征,其特征为出生后身材矮小、小头畸形、面容畸形、双手2/5及双脚1/4并指,以及第2和第5指中节指骨短小。