Revesz syndrome.
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.
Riyaz
A
A
Department of Pediatrics and Pediatric Gastroenterology, Medical College, Calicut, Kerala, India. riyazped@gmail.com
Riyaz
Najeeba
N
Jayakrishnan
M P
MP
Mohamed Shiras
P T
PT
Ajith Kumar
V T
VT
Ajith
Bindu S
BS
D001855:Bone Marrow Diseases / Q000175:diagnosis; D002675:Child, Preschool; D003937:Diagnosis, Differential; D019871:Dyskeratosis Congenita / Q000175:diagnosis*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis; D012163:Retinal Detachment / Q000175:diagnosis*; D012174:Retinitis Pigmentosa / Q000175:diagnosis*; D013577:Syndrome