Płód arlekin
Przypisy
- ↑ J. Bland Sutton. a Case of General Seborrhœa or “Harlequin” Fœtus. Med Chir Trans. 69, 291–296. 1886. PMCID 2121560.
- ↑ Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, Dopping-Hepenstal PJ, Dale BA, Tadini G, Fleckman P, Stephens KG, Sybert VP, Mallory SB, North BV, Witt DR, Sprecher E, Taylor AE, Ilchyshyn A, Kennedy CT, Goodyear H, Moss C, Paige D, Harper JI, Young BD, Leigh IM, Eady RA, O'Toole EA. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet. 76, 794-803. 2005. PMID 15756637.
- ↑ Patricia N. Olney, Richard S. Olney. Harlequin Ichthyosis among the Navajo: Counseling issues. Journal of Genetic Counseling. 2, 1. 1993. DOI:10.1007/BF00962555
- ↑ Hovnanian A. Harlequin ichthyosis unmasked: a defect of lipid transport. J Clin Invest. 115, 7, 1708-10. 2005. PMID 16007249. DOI:10.1172/JCI25736
- ↑ Prasad RS, Pejaver RK, Hassan A, Al Dusari S, Wooldridge MA. Management and follow up of harlequin siblings. Br J Dermatol. 130, 650-653. 1994. PMID 8204475.
- ↑ Lawlor F. Progress of Harlequin fetus owo nonbullous ichthyosiform erythroderma. Pediatrics. 82, 870-873. 1988.
- ↑ Roberts LJ. Long term survival of a harlequin fetus. J Am Acad Dermatol. 21, 335-339. 1989. PMID 2754067.
- ↑ Zapałowicz K, Wygledowska G, Roszkowski T, Bednarowska A. Harlequin ichthyosis--difficulties in prenatal diagnosis. J Appl Genet. 47, 2, 195-197. 2006. PMID 16682764.
- ↑ Berg C, Geipel A, Kohl M, Krokowski M, Baschat AA, Germer U, Gembruch U. Prenatal sonographic features of Harlequin ichthyosis. Arch Gynecol Obstet. 268, 1, 48-51. 2003. PMID 12673476.
- ↑ Sherri J Bale, Gabriele Richard: Autosomal Recessive Congenital Ichthyosis. GeneReviews.
- ↑ Waring JI. Early mention of a harlequin fetus in America. Am J Dis Child. 43, 442. 1932.
- ↑ "On Thursday, April þe 5, 1750, I went owo see a most deplorable object of a child, born the night before of one mary Evans in 'Chas'town. It was surprising owo all who beheld it, and I scarcely know how owo describe it. The skin was dry and hard and seemed owo be cracked in many places, somewhat resembling the scales of a fish. The mouth was large and round and open. It had ano external nose, obuwie two holes where the nose should have been. The eyes appeared owo be lumps of coagulated blood, turned out, about the bigness of a plum, ghastly owo behold. It had ano external ears, obuwie holes where the ears should be. The hands and feet appeared owo be swollen, were cramped up and felt quite hard. The back part of the head was much open. It made a strange kind of noise, very low, which I cannot describe. It lived about forty-eight hours and was alive when I saw it."
- ↑ Sievruk. De congenita epidermis hypertrophia. {{{czasopismo}}}.
- ↑ Kyber. Eine Untersuchung uber das universale diffuse congenitale Keratom der menschlichen Haut. Medizinische Jahrbuicher (Wien), 397. 1880.
- ↑ Vrolik W: Tabule ad illustrandam embryogenesin hominis et mammalium. Amsterdam: 1849.
- ↑ Wilks S, Moxon W: Lectures mąż pathological anatomy. Wyd. 2nd ed. Londyn: Churchill, 1875, s. 596.