Children with septo-optic dysplasia - how to improve and sharpen the diagnosis.
The data in this article are based on investigations performed in 25 children with suspected septo-optic dysplasia (SOD). There are many signs and methods that help in the diagnosis of SOD. In particular, the ocular fundus, abnormalities of the hypothalamo-pituitary axis and other midline brain structures should be described. In order to achieve a more holistic and functional diagnosis, the degree of neurological, neuropsychiatric and psychological involvement should also be stated. It has been suggested that SOD is associated with autosomal recessive inheritance, and it can be speculated that it is the result of genetic and environmental influences early in gestation. An early diagnosis can favourably influence the outcome of the affected child.
Hellström
A
A
Göteborg Paediatric Growth Research Centre, Department of Paediatrics, Göteborg, Sweden.
Aronsson
M
M
Axelson
C
C
Kyllerman
M
M
Kopp
S
S
Steffenburg
S
S
Strömland
K
K
Westphal
O
O
Wiklund
L
L
Albertsson Wikland
K
K
D001766:Blindness; D002648:Child; D002675:Child, Preschool; D003933:Diagnosis; D005260:Female; D006130:Growth Disorders / Q000209:etiology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009422:Nervous System Diseases / Q000209:etiology; D009900:Optic Nerve / Q000002:abnormalities* / Q000196:embryology / Q000473:pathology; D010907:Pituitary Hormones / Q000172:deficiency; D012688:Septum Pellucidum / Q000002:abnormalities* / Q000196:embryology; D013577:Syndrome
D010907:Pituitary Hormones