Hunter A G, Feldman W, Miller J
Am J Med Genet. 1986 Jul;24(3):527-32. doi: 10.1002/ajmg.1320240316.
We report on a mother and son with a similar facies characterized by a square forehead, small nose, telecanthus, and thin upper lip. They both had a similar metacarpal-phalangeal profile characterized by marked brachytelephalangy. They were both short in comparison to other family members, and the son had hypogonadotropic-hypogonadism and anosmia. We favor the hypothesis of a single autosomal dominant gene with variable expression of the hypogonadism and anosmia, although there are alternative explanations for the combination.
我们报告了一位母亲和她的儿子，他们有着相似的面容，特征为方形额头、小鼻子、内眦距增宽和上唇变薄。他们都有相似的掌指轮廓，其特征为明显的短指畸形。与其他家庭成员相比，他们两人都身材矮小，并且儿子患有低促性腺激素性性腺功能减退和嗅觉缺失。我们支持单一常染色体显性基因的假说，该基因导致性腺功能减退和嗅觉缺失有不同的表现形式，不过对于这种组合也有其他解释。
