Revesz syndrome.

Riyaz, A; Riyaz, Najeeba; Jayakrishnan, M P; Mohamed Shiras, P T; Ajith Kumar, V T; Ajith, Bindu S

Revesz syndrome.

Riyaz, A; Riyaz, Najeeba; Jayakrishnan, M P; Mohamed Shiras, P T; Ajith Kumar, V T; Ajith, Bindu S.

Indian J Pediatr ; 2007 Sep; 74(9): 862-3

Article in English | IMSEAR | ID: sea-80536

ABSTRACT

ABSTRACT

A 5-year-old girl was admitted with pallor, hypopigmented sparse hair, tongue ulcers, atrophic nail changes, hypoplastic anemia and bilateral exudative retinopathy. A diagnosis of Revesz syndrome was made. She had the additional features of retinal detachment and retinitis pigmentosa, which are hitherto unreported in this syndrome.

Subject(s)

Bone Marrow Diseases/diagnosis; Child, Preschool; Diagnosis, Differential; Dyskeratosis Congenita/diagnosis; Fatal Outcome; Female; Humans; Intellectual Disability/diagnosis; Retinal Detachment/diagnosis; Retinitis Pigmentosa/diagnosis; Syndrome

Fulltext

XML

Search on Google

Full text: Available Index: IMSEAR (South-East Asia) Main subject: Syndrome / Bone Marrow Diseases / Retinal Detachment / Female / Humans / Child, Preschool / Retinitis Pigmentosa / Fatal Outcome / Dyskeratosis Congenita / Diagnosis, Differential Type of study: Diagnostic study Language: English Journal: Indian J Pediatr Year: 2007 Type: Article

Similar

MEDLINE

LILACS

LIS

Fulltext

XML

Search on Google