Yunis varon syndrome

被引:5
作者
Kulkarni M.L. [1 ,2 ]
Vani H.N. [1 ]
Nagendra K. [1 ]
Mahesh T.K. [1 ]
Kumar A. [1 ]
Haneef S. [1 ]
Mohammed Z. [1 ]
Kulkarni P.M. [1 ]
机构
[1] Department of Pediatrics, JJM Medical College, Davangere, Karnataka
[2] JJM Medical College, Davangere-577 004, 2373, M.C.C. 'A' Block
关键词
Cleidocranialdysplasia; Distal aphalangea; Yunis-Varon syndrome (YVS);
D O I
10.1007/BF02825832
中图分类号
学科分类号
摘要
In this communication is reported a neonate with Yunis Varon syndrome, a rare autosomal recessive disorder, born to a consanguineously married couple who had microcephaly, wide cranial sutures, prominent eyes, hypertelorism, dysplastic ears, sparse hairs, cupid bow like upper lip with median pseudocleft and labio-gingival retraction. Bilateral hypoplasia of thumbs, absent great toes, short phalanges were other features. Additional features in this case included median pseudocleft unreported earlier and C. T. findings of underdeveloped gyri, ischemic changes in temperoparietal region and bilateral lacunar infarcts in middle cerebral artery territory.
引用
收藏
页码:353 / 355
页数:2
相关论文
共 16 条
[1]  
Yunis E., Varon H., Cleidocranial dysostois severe micrognathism bilateral absence of thumbs and first metatarsal bone and distal aphalangia: A new genetic syndrome, Am J Dis Child, 134, pp. 649-653, (1980)
[2]  
Hughes H.E., Partington M.W., Brief clinical report: The syndrome of Yunis and Varon - Report of a further case, Am J Med Genet, 14, pp. 539-544, (1983)
[3]  
Pfeiffer R.A., Diekmann L., Stock H.J., Aplasia of the thumbs and great toes as the outstanding features of Yunis and Varon syndrome. A new entity. A new observation, Ann Genet, 31, pp. 241-243, (1988)
[4]  
Hennekam R.C.M., Vermeulen M.C., Further delineation of the Yunis-Varon syndrome, J Med Genet, 26, pp. 55-58, (1989)
[5]  
Ades L.C., Moris L.L., Richardson M., Pearson C., Haan E.A., Congenital heart malformation in Yunis-Varon syndromes, J Med Genet, 30, pp. 788-792, (1993)
[6]  
Garret C., Berry A.C., Simpson R.H., Hall C.M., Yunis Varon syndrome with severe osteodysplasty, J Med Genet, 27, pp. 114-121, (1990)
[7]  
Lapeer G.L., Fansman S.L., Hypodontia, impacted permanent teeth, spinal defects and cardiomegaly in a previously diagnosed case of the Yunis-Varon syndrome, Oral Surg Oral Med Oral Pathol, 73, pp. 456-460, (1992)
[8]  
Rabe H., Brune T., Rossi R., Steinhorst V., Jorch G., Horst J., Wittwer B., Yunis Varon syndrome: The first case of German origin, Clin Dysmorphol, 5, pp. 217-222, (1996)
[9]  
Christie J., Sacks S., Decorato D., Bergasa N.V., Atrophy of the left lobe of the liver and anomalous hepatic vessel in a patient with Yunis-Varon syndrome, J Clin Gastroenterol, 29, pp. 210-211, (1999)
[10]  
Jones K.L., Smith's Recognizable Patterns of Human Malformation. 5th Edition, pp. 410-411, (1997)