Lopes V L, Marques-De-Faria A P
Departamento de Genética Médica Faculdade de Ciências Médicas, Universidade Estadual de Campinas, SP, Brasil.
Genet Couns. 1996;7(1):47-51.
We have studied a boy with a particular clinical picture of mental retardation, hypotrichosis, early eruption of teeth, and syndactyly of hands. One sister, who died at four month of age, probably was also affected. This clinical association may represent an undescribed condition. Autosomal recessive inheritance is suggested.
我们研究了一名患有智力发育迟缓、毛发稀少、牙齿早萌和并指畸形等特殊临床表现的男孩。他的一个妹妹在4个月大时夭折,可能也受到了影响。这种临床关联可能代表一种尚未被描述的病症。提示为常染色体隐性遗传。