Ocular defects and short stature.
The presence of ocular anomalies in a short child raises the possibility of hypothalamic-pituitary dysfunction or other intracranial abnormalities. The ocular, endocrine and neurologic findings in three children with short stature are described in this article. The first child had a large basal encephalocele, agenesis of the corpus callosum, mild optic atrophy in one eye, a retinal pigment epithelial defect in the other eye and bitemporal hemianopia; the second child had septo-optic dysplasia and the third child had Rieger's anomaly. All had deficient or abnormal growth hormone responses and two of the children had other pituitary hormonal abnormalities. It is suggested that an arrest of development during organogenesis can produce a spectrum of abnormalities involving ocular, endocrine and neurologic structures. Early diagnosis is important so that endocrinologic and neurologic investigations can be undertaken and appropriate therapy implemented.
D000293:Adolescent; D061085:Agenesis of Corpus Callosum; D002648:Child; D002675:Child, Preschool; D003103:Coloboma / Q000150:complications*; D004677:Encephalocele / Q000150:complications; D005124:Eye Abnormalities; D006130:Growth Disorders / Q000150:complications*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007498:Iris / Q000002:abnormalities; D008297:Male; D009896:Optic Atrophy / Q000150:complications; D010857:Pigment Epithelium of Eye / Q000002:abnormalities; D013577:Syndrome