Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy

American Journal of Medical Genetics, Part A

Volumn 152, Issue 6, 2010, Pages 1550-1554

  Isidor, Bertrand ^a   Baron, Sabine ^a   Van Kien, Philippe Khau ^c   Bertrand, Anne Marie ^b   David, Albert ^a   Le Merrer, Martine ^d  

^a NANTES UNIVERSITY HOSPITAL   (France)

^b UNIVERSITY HOSPITAL OF BESANÇON   (France)

^c HÔPITAL ARNAUD DE VILLENEUVE   (France)

^d Clinique de Genetique Medicale   (France)

Author keywords

Cone rod dystrophy; Metaphyseal dysplasia; Optic atrophy; Retinal pigmentosa

Indexed keywords

ARTICLE; AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA; BONE DYSPLASIA; CASE REPORT; CHILD; ELECTROPHYSIOLOGY; EYE EXAMINATION; HUMAN; LABORATORY TEST; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RETINA DYSTROPHY; RETINITIS PIGMENTOSA; SCHOOL CHILD; SHORT STATURE;

ADOLESCENT; CHILD; FEMUR; GROWTH DISORDERS; HUMANS; MALE; OSTEOCHONDRODYSPLASIAS; RETINAL DEGENERATION; RETINITIS PIGMENTOSA; SYNDROME;

EID: 77952752226     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33397     Document Type: Article

References (9)

1. Beales PL, Bland E, Tobin JL, Bacchelli C, Tuysuz B, Hill J, Rix S, Pearson CH,KaiM,Hartley J, Johnson C, IrvingM,Elcioglu N, WineyM,TadaM, Scambler PJ. 2007. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nat Genet 39:727-729. (Pubitemid 46848589)
2. Dagoneau N, Goulet M, Genevieve D, Sznajer Y, Martinovic J, Smithson S, Huber C, Baujat G, Flori E, Tecco L, Cavalcanti D, Delezoide A-L, Serre V, Le Merrer M, Munnich A, Cormier-Daire V. 2009. DYNC2H1mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet 84:706-711.
3. Ehara S, Kim OH, Maisawa S, Takasago Y, Nishimura G. 1997. Axial spondylometaphyseal dysplasia. Eur J Pediatr 156:627-630.
4. Megarbane A, Melick N, Daou L. 2004. A newly recognized skeletal dysplasia with rhizomelic limbs and retinitis pigmentosa. Am J Med Genet Part A 130A:176-180. (Pubitemid 39303553)
5. Megarbane A, Ghanem I, Waked N, Dagher F. 2006. A newly recognized autosomal recessive syndrome with short stature and oculo-skeletal involvement. Am J Med Genet Part A 140A:1491-1496. (Pubitemid 43993106)
6. Merrill AE, Merriman B, Farrington-Rock C, Camacho N, Sebald ET, Funari VA, Shibler MJ, Firestein MH, Cohn ZA, Priore MA, Thompson AK, Rimoin DL, Nelson SF, Cohn DH, Krakow D. 2009. Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. Am J Hum Genet 84:542-549.
7. Phillips CI, Wynne-Davies R, Stokoe NL, Newton M. 1981. Retinitis pigmentosa, metaphyseal chondrodysplasia, and brachydactyly: An affected brother and sister. J Med Genet 18:46-49. (Pubitemid 11136819)
8. Superti-Furga A, Unger S. 2006. Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet Part A 143A:1-18. (Pubitemid 46051466)
9. Walters BA, Raff ML, Hoeve JV, Tesser R, Langer LO, France TD, Glass IA, Pauli RM. 2004. Spondylometaphyseal dysplasia with cone-rod dystrophy. Am J Med Genet Part A 129A:265-276.