ter Haar B, Hamel B, Hendriks J, de Jager J
Am J Med Genet. 1982 Dec;13(4):469-77. doi: 10.1002/ajmg.1320130418.
We describe three patients with bone changes and the facial characteristics of the Melnick-Needles syndrome (MNS). Associated anomalies (once bilateral glaucoma, twice congenital heart defect) were the reason for referral. The MNS literature also suggests a high frequency of associated anomalies, especially cardiopulmonary malformations. The distribution of the affected relatives, consanguinity of one pair of parents, and absence of similar symptoms in parents and other relatives makes autosomal recessive inheritance of the trait in this family a definite possibility. This is of great importance in genetic counseling, particularly of sporadic cases.
我们描述了三名患有骨骼改变及梅尼克-尼德尔斯综合征（MNS）面部特征的患者。相关异常情况（一次为双侧青光眼，两次为先天性心脏缺陷）是转诊的原因。MNS的文献资料也表明相关异常情况的发生率较高，尤其是心肺畸形。受累亲属的分布情况、一对父母的近亲关系以及父母和其他亲属中无类似症状，使得该家族中该性状的常染色体隐性遗传成为一种明确的可能性。这在遗传咨询中非常重要，尤其是对于散发病例。
