Visual impairment and prolonged survival in a girl with Marshall-Smith syndrome.
Marshall-Smith syndrome is characterized by overgrowth, advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features and variable mental retardation. Respiratory problems are a major cause of early morbidity and mortality. Ocular features have been mentioned in previous reports, but details are limited. This report describes the clinical features of a child with typical features of Marshall-Smith syndrome with emphasis on visual function. She had megalocornea, hypoplastic optic discs and was partially sighted. Aggressive management of the early respiratory and feeding problems improved survival in this child.
Department of Clinical Genetics, Great Ormond Street Hospital, London, UK. c.deshpande@ich.ucl.ac.uk
Charulata
C
Deshpande
Michael
M
Forrest
Isabelle
I
Russell-Eggitt
Christine M
CM
Hall
Ramesh
R
Mehta
Joan
J
Paterson
D000015:Abnormalities, Multiple / Q000473:pathology*; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002675:Child, Preschool; D005128:Eye Diseases / Q000150:complications*; D005260:Female; D006801:Humans; D007223:Infant; D011859:Radiography; D016019:Survival Analysis; D013577:Syndrome