Unique case of growth hormone (GH) deficiency accompanied by clinical anophthalmia, hypoplastic orbits, digital dysplasia, short stature, obesity, and diabetes mellitus
“…Although we cannot entirely exclude the possibility of a coincidental occurrence, it may be reasonable to assume that severe growth hormone deficiency in the proband might be involved in development of CG. In medical literature are a remarkable number of reports stating that growth hormone is needed for normal eye development and that, in cases of growth hormone deficiency, a variety of dysgenesis in the eyes may develop [4][5][6][7]. An FA patient with growth hormone deficiency in whom various ocular developmental abnormalities are displayed has been reported as well [8].…”
Fanconi anemia is an autosomal recessive disorder characterized by growth retardation along with many congenital abnormalities involving the eyes. We report herein two siblings with Fanconi anemia who also have bilateral congenital glaucoma. To the best of our knowledge, this is the first report of congenital glaucoma in patients with Fanconi anemia. Am.
“…Although we cannot entirely exclude the possibility of a coincidental occurrence, it may be reasonable to assume that severe growth hormone deficiency in the proband might be involved in development of CG. In medical literature are a remarkable number of reports stating that growth hormone is needed for normal eye development and that, in cases of growth hormone deficiency, a variety of dysgenesis in the eyes may develop [4][5][6][7]. An FA patient with growth hormone deficiency in whom various ocular developmental abnormalities are displayed has been reported as well [8].…”
Fanconi anemia is an autosomal recessive disorder characterized by growth retardation along with many congenital abnormalities involving the eyes. We report herein two siblings with Fanconi anemia who also have bilateral congenital glaucoma. To the best of our knowledge, this is the first report of congenital glaucoma in patients with Fanconi anemia. Am.
Results Patients with clinical anophthalmos had a high incidence of developmental abnormalities involving both eyes (15117 patients, 88%), the brain (12/17 patients, 71%) and the body (7/12, 58%).
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