Zlotogora J, BenEzra D, Cohen T, Cohen E
Department of Human Genetics, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
Am J Med Genet. 1990 Jul;36(3):269-72. doi: 10.1002/ajmg.1320360303.
In 3 families 4 patients were affected with the syndrome of brittle cornea, blue sclera, and hyperextensible joints (brittle cornea syndrome). From the review of 17 affected patients described previously and our cases, it appears that this rare autosomal recessive syndrome has variable expressivity. Two different groups of patients may be distinguished: one includes 5 families, all of Tunisian Jewish origin. All patients in this group also have red hair. In the second group, 9 families are from various ethnic origins; affected patients in this group have a normal distribution of hair color. A possible explanation for the existence of these 2 different group of patients is that the locus of the gene responsible for the syndrome is closely linked to the locus for a gene responsible for hair color with linkage disequilibrium in Tunisian Jews (Sepharadim).
在3个家族中，有4名患者患有角膜脆裂、巩膜蓝染和关节过度伸展综合征（脆角膜综合征）。通过回顾先前描述的17名受累患者及我们的病例，似乎这种罕见的常染色体隐性综合征具有可变的表达性。可区分出两组不同的患者：一组包括5个家族，均为突尼斯犹太裔。该组所有患者均为红头发。在第二组中，9个家族来自不同种族；该组受累患者的头发颜色呈正常分布。这两组不同患者存在的一个可能解释是，导致该综合征的基因位点与导致头发颜色的基因位点紧密连锁，在突尼斯犹太人（西班牙系犹太人）中存在连锁不平衡。
