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1989 1
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2021 2
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16 results

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Page 1
Rothmund-Thomson syndrome.
Larizza L, Roversi G, Volpi L. Larizza L, et al. Orphanet J Rare Dis. 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2. Orphanet J Rare Dis. 2010. PMID: 20113479 Free PMC article. Review.
Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ra …
Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short …
Idiopathic hirsutism: excessive bodily and facial hair in women.
Elghblawi E. Elghblawi E. Br J Nurs. 2008 Feb 14-27;17(3):192-7. doi: 10.12968/bjon.2008.17.3.28410. Br J Nurs. 2008. PMID: 18414261 Review.
Hirsutism is the excessive and increased bodily and facial hair growth in women in locations where hair is normally minimal or absent. ...An example of a medical treatment is when an agent is used, which interferes with the synthesis of androgen at the …
Hirsutism is the excessive and increased bodily and facial hair growth in women in locations where hair is normally min …
Androgen excess: Investigations and management.
Lizneva D, Gavrilova-Jordan L, Walker W, Azziz R. Lizneva D, et al. Best Pract Res Clin Obstet Gynaecol. 2016 Nov;37:98-118. doi: 10.1016/j.bpobgyn.2016.05.003. Epub 2016 May 19. Best Pract Res Clin Obstet Gynaecol. 2016. PMID: 27387253 Review.
Although AE will contribute to the ovulatory and menstrual dysfunction of these patients, the most recognizable sign of AE includes hirsutism, acne, and androgenic alopecia or female pattern hair loss (FPHL). Evaluation includes not only scoring facial and body term …
Although AE will contribute to the ovulatory and menstrual dysfunction of these patients, the most recognizable sign of AE includes hirsutis …
Phenotype and genotype in Nicolaides-Baraitser syndrome.
Sousa SB, Hennekam RC; Nicolaides-Baraitser Syndrome International Consortium. Sousa SB, et al. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):302-14. doi: 10.1002/ajmg.c.31409. Epub 2014 Aug 28. Am J Med Genet C Semin Med Genet. 2014. PMID: 25169058 Review.
The cardinal features (ID, short stature, microcephaly, typical face, sparse hair, brachydactyly, prominent interphalangeal joints, behavioral problems and seizures), are almost universally present. There is variability however, as ID can range from severe to mild, …
The cardinal features (ID, short stature, microcephaly, typical face, sparse hair, brachydactyly, prominent interphalangeal jo …
Comprehensive clinical management of hirsutism.
Castelo-Branco C, Cancelo MJ. Castelo-Branco C, et al. Gynecol Endocrinol. 2010 Jul;26(7):484-93. doi: 10.3109/09513591003686353. Gynecol Endocrinol. 2010. PMID: 20218823 Review.
Hirsutism is an excessive body and facial hair growth in women in locations where is normally minimal or absent following a hair-male pattern. ...Until now, medical treatment has been designed to interfere with the synthesis of androgen at the ovarian …
Hirsutism is an excessive body and facial hair growth in women in locations where is normally minimal or absent followi …
Vici syndrome in siblings born to consanguineous parents.
Tasdemir S, Sahin I, Cayır A, Yuce I, Ceylaner S, Tatar A. Tasdemir S, et al. Am J Med Genet A. 2016 Jan;170A(1):220-5. doi: 10.1002/ajmg.a.37398. Epub 2015 Sep 23. Am J Med Genet A. 2016. PMID: 26395118 Review.
We describe two brothers from healthy consanguineous Turkish parents with psychomotor delay, congenital bilateral cataracts, high palate, long philtrum, micrognathia, fair hair, and skin. They both had general hypotonia and elevated muscle enzymes. ...
We describe two brothers from healthy consanguineous Turkish parents with psychomotor delay, congenital bilateral cataracts, high palate, lo …
Social significance of the eyebrows and periorbital complex.
Carruthers J, Carruthers A. Carruthers J, et al. J Drugs Dermatol. 2014 Jan;13(1 Suppl):s7-s11. J Drugs Dermatol. 2014. PMID: 24385129 Review.
As a result, a whole industry has grown up around such varied techniques as plucking and redrawing, or gluing or tattooing on a replacement. In earlier centuries, the shaven forehead and almost absent brow were seen as a symbol of sexual purity. In the modern age, the brow …
As a result, a whole industry has grown up around such varied techniques as plucking and redrawing, or gluing or tattooing on a replacement. …
Hypohidrotic ectodermal dysplasia: a review.
Champlin TL, Mallory SB. Champlin TL, et al. J Ark Med Soc. 1989 Aug;86(3):115-7. J Ark Med Soc. 1989. PMID: 2528538 Review.
These abnormalities include 1) trichodysplasia, 2) dental defects, 3) onychodysplasia, and 4) dyshidrosis. Also common are thin, dry skin, typical facial features such as saddle-nose deformity and periorbital wrinkling/pigmentation, otolaryngologic problems, eczema, and re …
These abnormalities include 1) trichodysplasia, 2) dental defects, 3) onychodysplasia, and 4) dyshidrosis. Also common are thin, dry skin, t …
Androgenization in Klinefelter syndrome: Clinical spectrum from infancy through young adulthood.
Nassau DE, Best JC, Cohen J, Gonzalez DC, Alam A, Ramasamy R. Nassau DE, et al. J Pediatr Urol. 2021 Jun;17(3):346-352. doi: 10.1016/j.jpurol.2021.02.021. Epub 2021 Feb 24. J Pediatr Urol. 2021. PMID: 33726973 Review.
Testicular failure causing decreased circulating testosterone (T) and germ cell depletion, a hallmark feature in KS, commonly begins shortly after the onset of puberty and leads to the most commonly recognized KS traits: small testes, azoospermia, gynecomastia, decreased facia
Testicular failure causing decreased circulating testosterone (T) and germ cell depletion, a hallmark feature in KS, commonly begins shortly …
Androgens and male physiology the syndrome of 5alpha-reductase-2 deficiency.
Imperato-McGinley J, Zhu YS. Imperato-McGinley J, et al. Mol Cell Endocrinol. 2002 Dec 30;198(1-2):51-9. doi: 10.1016/s0303-7207(02)00368-4. Mol Cell Endocrinol. 2002. PMID: 12573814 Review.
Virilization occurs at puberty frequently with a gender role change. The prostate in adulthood is small and rudimentary, and facial and body hair is absent or decreased. Balding has not been reported. ...
Virilization occurs at puberty frequently with a gender role change. The prostate in adulthood is small and rudimentary, and facial a …
16 results