[Rothmund-Thompson syndrome with glaucoma. Endocrine study].
Two cases of Rothmund-Thomson syndrome in siblings are described. The elder patient, whose case was best documented and who was followed for several years, had the characteristic skin changes of poikiloderma congenitale with small stature and mental deficiency. Upon ophthalmologic examination, this patient was shown to have bilateral glaucoma which was treated surgically, while the cataract typically found in Rothmund-Thomson syndrome was lacking. Primary hypogonadism was confirmed by endocrinologic investigations; anterior pituitary hormones were normally released. With reference to this observation differential diagnosis is discussed; the medical literature is reviewed.
D000015:Abnormalities, Multiple / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D000293:Adolescent; D002648:Child; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D005901:Glaucoma / Q000150:complications*; D006801:Humans; D007006:Hypogonadism / Q000175:diagnosis; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D011038:Rothmund-Thomson Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D012871:Skin Diseases / Q000175:diagnosis*
D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone
Syndrome de Rothmund-Thomson avec glaucome. Etude endocrinienne.