Spondylo-ocular syndrome: A new entity involving the eye and spine [6]

American Journal of Medical Genetics

Volumn 140 A, Issue 6, 2006, Pages 652-656

  Alanay, Yasemin ^a   Superti Furga, Andrea ^b   Karel, Fatih ^c   Tunçbilek, Ergül ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b UNIVERSITY OF FREIBURG   (Germany)

^c ANKARA UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

CAPSULORHEXIS; CASE REPORT; CHONDRODYSPLASIA; CONGENITAL CATARACT; CONGENITAL NYSTAGMUS; EVOKED VISUAL RESPONSE; EYE MALFORMATION; FLATFOOT; HEART MURMUR; HEART VENTRICLE SEPTUM DEFECT; HUMAN; JOINT HYPERMOBILITY; LENSECTOMY; LETTER; MALE; MUSCLE HYPOTONIA; MYOPIA; OSTEOPOROSIS; PRIORITY JOURNAL; RETINA PIGMENT DEGENERATION; SCHOOL CHILD; SHORT STATURE; SPINE MALFORMATION; SPONDYLOOCULAR SYNDROME; VISUAL ACUITY; VITRECTOMY;

ABNORMALITIES, MULTIPLE; CATARACT; CHILD, PRESCHOOL; EYE ABNORMALITIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; OSTEOPOROSIS; SPINE; SYNDROME;

EID: 33644852806     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31119     Document Type: Letter

References (4)

1. al Gazali LI, Sabrinathan K, Nair KG. 1994. A syndrome of osteogenesis imperfecta, optic atrophy and severe developmental delay in two sibs of consanguineous parents. Clin Dysmorphol 3:55-62.
2. Buyse M, Bull MJ. 1978. A syndrome of osteogenesis imperfecta, microcepaly and cataracts. Birth Defects Orig Artic Ser 14(6B):95-98.
3. Rudolph G, Kalpadakis P, Bettecken T, Lichtner P, Haritoglou C, Hergersberg M, Meitinger T, Schmidt H. 2003. Spondyloocular syndrome: A new entity with crystalline lens malformation, cataract, retinal detachment, osteoporosis, and platyspondyly. Am J Ophthalmol 135:681-687.
4. Schmidt H, Rudolph G, Hergersberg M, Schneider K, Moradi S, Meitinger T. 2001. Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred-A possible new syndrome. Clin Genet 59:99-105.