Peripheral ischemic retinopathy in Adams-Oliver syndrome

Archives of Ophthalmology

Volumn 130, Issue 8, 2012, Pages 1078-1080

  Peralta Calvo, Jesus ^a   Pastora, Natalia ^a   Casa Ventura, Yolanda G ^a   Hernandez Serrano, Rafael ^a   Abelairas, Jose ^a  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADAMS OLIVER SYNDROME; CASE REPORT; CONSERVATIVE TREATMENT; EYE EXAMINATION; FEMALE; FETUS ECHOGRAPHY; HUMAN; LASER COAGULATION; LASER SURGERY; LETTER; NEWBORN; PERIPHERAL ISCHEMIC RETINOPATHY; PRIORITY JOURNAL; RETINOPATHY;

ECTODERMAL DYSPLASIA; FATAL OUTCOME; FEMALE; GESTATIONAL AGE; HUMANS; INFANT, NEWBORN; ISCHEMIA; LIMB DEFORMITIES, CONGENITAL; RETINAL DISEASES; RETINAL VESSELS; SCALP DERMATOSES;

EID: 84865607633     PISSN: 00039950     EISSN: 15383601     Source Type: Journal    
DOI: 10.1001/archophthalmol.2012.531     Document Type: Letter

References (6)

1. Adams FH, Oliver CP. Hereditary deformities in man due to arrested development. J Hered. 1945;36(1):3-7.
2. Swartz EN, Sanatani S, Sandor GG, Schreiber RA. Vascular abnormalities in Adams-Oliver syndrome: cause or effect? Am J Med Genet . 1999;82(1):49-52. (Pubitemid 29022299)
3. Pousti TJ, Bartlett RA. Adams-Oliver syndrome: genetics and associated anomalies of cutis aplasia. Plast Reconstr Surg. 1997;100(6):1491-1496. (Pubitemid 27508210)
4. Piazza AJ, Blackston D, Sola A. A case of Adams-Oliver syndrome with associated brain and pulmonary involvement: further evidence of vascular pathology? Am J Med Genet A. 2004;130A(2):172-175. (Pubitemid 39303552)
5. Patel MS, Taylor GP, Bharya S, et al. Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndrome. Am J Med Genet A. 2004;129A(3):294-299. (Pubitemid 39166197)
6. Shaheen R, Faqeih E, Sunker A, et al. Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. Am J Hum Genet. 2011;89(2):328-333.