Keith C G, Webb G C, Rogers J G
Department of Ophthalmology, Royal Children's Hospital, Melbourne, Victoria, Australia.
J Med Genet. 1988 Feb;25(2):122-5. doi: 10.1136/jmg.25.2.122.
Absence of the right lateral rectus muscle and hypoplasia of the left was found in a child with congenital esotropia. He had mental and physical retardation, bilateral optic nerve hypoplasia, and many minor dysmorphic features, including brachycephaly, high forehead, poorly folded, low set ears, epicanthic folds, exaggerated Cupid's bow, long philtrum, and single palmar creases. Unusual features were a markedly ridged palate and a plantar crease which passed from the first and second interspace across the lateral border of the foot. He was found to have an unbalanced karyotype with duplication of chromosome segment 7q32----q34 (46,XY,der(2),inv?ins(2;7) (q21;q32q34)mat). The mother, maternal aunt, and sister of the proband all had a balanced rearrangement and were phenotypically normal.
在一名先天性内斜视患儿中发现右侧外直肌缺如及左侧外直肌发育不全。他有智力和身体发育迟缓、双侧视神经发育不全，以及许多轻微的畸形特征，包括短头畸形、前额高、耳朵折叠不良且位置低、内眦赘皮、丘比特弓夸张、人中长和单一掌褶。异常特征是硬腭明显隆起，足底褶痕从第一和第二间隙穿过足外侧缘。发现他的核型不平衡，有7q32----q34染色体片段重复（46,XY,der(2),inv?ins(2;7) (q21;q32q34)mat）。先证者的母亲、姨妈和姐姐均有平衡重排，且表型正常。
