Ocular manifestations of donnai-barrow syndrome

Journal of Child Neurology

Volumn 22, Issue 4, 2007, Pages 462-464

  Patel, Nehal ^a   Hejkal, Thomas ^a   Katz, Allen ^a   Margalit, Eyal ^a  

^a UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

Author keywords

Donnai Barrow syndrome; High myopia; Retinal detachment

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; CORPUS CALLOSUM AGENESIS; DIODE LASER; DONNAI BARROW SYNDROME; EYE DISEASE; EYELID DISEASE; FACE DYSMORPHIA; FEMALE; HUMAN; HYPERTELORISM; IRIS COLOBOMA; LASER COAGULATION; MALE; MYOPIA; PERCEPTION DEAFNESS; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA DETACHMENT; RISK FACTOR; SHORT NOSE;

ABNORMALITIES, MULTIPLE; AUTOIMMUNE DISEASES; CORPUS CALLOSUM; FEMALE; HUMANS; HYPERTELORISM; INFANT; MAGNETIC RESONANCE IMAGING; MALE; RETINAL DETACHMENT; SIBLINGS; SYNDROME;

EID: 34250312404     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073807301933     Document Type: Article

References (4)

1. Donnai D., Barrow M. Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: A newly recognized autosomal recessive disorder? Am J Med Genet. 1993; 47: 679-682.
2. Gripp KW, Donnai D., Clericuzio CL, McDonald-McGinn DM, Guttenberg M, Zackai EH. Diaphragmatic hernia-exomphalos-hypertelorism syndrome: A new case and further evidence of autosomal recessive inheritance. Am J Med Genet. 1997; 68: 441-444.
3. Chassaing N., Lacombe D., Carles D., Calvas P., Saura R., Bieth E. Donnai-Barrow syndrome: Four additional patients. Am J Med Genet A. 2003; 121: 258-262.
4. Avunduk AM, Aslan Y., Kapicioglu Z., Elmas R. High myopia, hypertelorism, iris coloboma, exomphalos, absent corpus callosum, and sensorineural deafness: Report of a case and further evidence for autosomal recessive inheritance. Acta Ophthalmol Scand. 2000; 78: 221-222.