NEWLY RECOGNIZED SYNDROME OF CEREBRAL, OCULAR, DENTAL, AURICULAR, SKELETAL ANOMALIES - CODAS SYNDROME - A CASE-REPORT

被引:29
作者
SHEBIB, SM
REED, MH
SHUCKETT, EP
CROSS, HG
PERRY, JB
CHUDLEY, AE
机构
[1] CHILDRENS HOSP,CLIN GENET SECT,840 SHERBROOK ST,WINNIPEG R3A 1S1,MANITOBA,CANADA
[2] UNIV MANITOBA,DEPT PEDIAT & CHILD HLTH,WINNIPEG R3T 2N2,MANITOBA,CANADA
[3] UNIV MANITOBA,DEPT PEDIAT RADIOL,WINNIPEG R3T 2N2,MANITOBA,CANADA
[4] UNIV MANITOBA,DEPT OPHTHALMOL,WINNIPEG R3T 2N2,MANITOBA,CANADA
[5] UNIV MANITOBA,DEPT PREVENT DENT SCI,WINNIPEG R3T 2N2,MANITOBA,CANADA
[6] UNIV MANITOBA,DEPT STOMATOL,WINNIPEG R3T 2N2,MANITOBA,CANADA
[7] UNIV MANITOBA,DEPT HUMAN GENET,WINNIPEG R3T 2N2,MANITOBA,CANADA
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 40卷 / 01期
关键词
MENTAL RETARDATION; CATARACTS; VERTEBRAL CORONAL CLEFTS; SPONDYLOEPIPHYSEAL DYSPLASIA; DENTAL ANOMALIES; DEAFNESS;
D O I
10.1002/ajmg.1320400118
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We report on a child with a unique constellation of congenital anomalies suggesting a new syndrome. These consist of developmental delay; craniofacial abnormalities, including bilateral cataracts, ptosis, median nasal groove, malformed ears with associated neurosensory hearing loss; dental anomalies consisting of anomalous cusp morphology with unusual pointed extensions and delayed tooth eruption; short stature with marked delay in epiphyseal ossification; coronal clefts involving vertebrae T11-S2; and dislocated hips. A literature search and use of a computer-assisted syndrome-identification program failed to uncover an identical case.
引用
收藏
页码:88 / 93
页数:6
相关论文
共 16 条
[1]   TALON CUSP IN PRIMARY DENTITION [J].
CHEN, RJ ;
CHEN, HS .
ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY AND ENDODONTOLOGY, 1986, 62 (01) :67-72
[2]  
COHEN MM, 1975, SYND IDENT, V3, P1
[3]   THE NEUROFACIODIGITORENAL (NFDR) SYNDROME [J].
FREIREMAIA, N ;
PINHEIRO, M ;
OPITZ, JM .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1982, 11 (03) :329-336
[4]   TALON CUSPS - DENTAL ANOMALY IN THE RUBINSTEIN-TAYBI SYNDROME [J].
GARDNER, DG ;
GIRGIS, SS .
ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY AND ENDODONTICS, 1979, 47 (06) :519-521
[5]   DENS EVAGINATUS - CASE-REPORT AND REVIEW OF THE LITERATURE [J].
GEIST, JR .
ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY AND ENDODONTICS, 1989, 67 (05) :628-631
[6]   MOHR SYNDROME OR ORAL-FACIAL-DIGITAL-II - REPORT OF 2 CASES [J].
GOLDSTEI.E ;
MEDINA, JL .
JOURNAL OF THE AMERICAN DENTAL ASSOCIATION, 1974, 89 (02) :377-382
[7]  
HEYMANS HSA, 1985, NEW ENGL J MED, V313, P187
[8]  
HEYMANS HSA, 1985, NEW ENGL J MED, V313, P188
[9]   METAPHYSEAL AND EPIPHYSEAL DYSPLASIA WITH UNUSUAL FACIES AND CATARACT [J].
KOZLOWSKI, K ;
RAFINSKI, T ;
KUCHARSKA, K .
AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1973, 125 (04) :553-556
[10]   HUMERO-SPINAL DYSOSTOSIS WITH CONGENITAL HEART-DISEASE [J].
KOZLOWSKI, KS ;
CELERMAJER, JM ;
TINK, AR .
AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1974, 127 (03) :407-410