远端无指骨、并指畸形及额外跖骨，伴身材矮小、小头畸形及边缘智力：一种新的常染色体显性遗传病。
Distal aphalangia, syndactyly, and extra metatarsal, associated with short stature, microcephaly, and borderline intelligence: a new autosomal dominant disorder.
作者信息
Martínez-Frías M L, Martín M, Pardo M, Fernandez de las Heras F, Frías J L
机构信息
ECEMC, Facultad de Medicina, Universidad Complutense, Madrid, Spain.
出版信息
Am J Med Genet. 1995 Jan 16;55(2):213-6. doi: 10.1002/ajmg.1320550212.
PMID:7717420
Abstract
We report on 3 members of a Spanish family with partial aphalangia, syndactyly with duplication of metatarsal IV, microcephaly, dull intelligence, and short stature. The MCA pattern observed in this family appears to constitute a previously undescribed syndrome.
摘要
我们报告了一个西班牙家庭的三名成员，他们患有部分无指（趾）畸形、第四跖骨重复并指（趾）畸形、小头畸形、智力迟钝和身材矮小。在这个家庭中观察到的MCA模式似乎构成了一种以前未描述过的综合征。
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