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CHAPTER 5: CONNECTIVE TISSUE, SKIN, AND BONE DISORDERS

273

2.Alfonso I, Howard C, Lopez P, Palomino JA, Gonzalez CE. Linear nevus sebaceous syndrome. A review. J Clin Neuro-ophthalmol 1987;7:170–177.

3.Allen RA, O’Malley C, Straatsma BR. Ocular findings in hereditary ochronosis. Arch Ophthalmol 1961;65:657–668.

4.Allen RA, Straatsma BR, Apt L, Hall JF. Ocular manifestations of the Marfan syndrome. Trans Am Acad Ophthalmol Otolaryngol 1967;71:13–38.

5.Anneren G, Anderson T, Lindgren PG, Kjartansson S. Ectrodactylyectodermal dysplasia-clefting syndrome (EEC): the clinical variation and prenatal diagnosis. Clin Genet 1991;40:257–262.

6.Bahn AK, Fujikawa LS, Foster CS. T cell subsets and Langerhans cells in normal and diseased conjunctiva. Am J Ophthalmol 1982; 94:205–212.

7.Balestrazzi P, Corrini L, Villani G, Bolla MP, Casa F, Bernasconi S. The Cohen syndrome: clinical and endocrinological studies of two new cases. J Med Genet 1980;17:430–432.

8.Barton DE, Kwon BS, Francke U. Human tyrosinase gene, mapped to chromosome 11(q14–q21), defines second region of homology with mouse chromosome 7. Genomics 1988;3:17–24.

9.Beighton H. X-linked inheritance in the Ehlers-Danlos syndrome. Br Med J 1968;2:409–411.

10.Beighton P. Serious complications in the Ehlers–Danlos syndrome. Br J Ophthalmol 1970;54:263–268.

11.Beighton P, de Paepe A, Danks D, et al. International nosology of heritable disorders of connective tissue, Berlin 1986. Am J Med Genet 1988;29:581–594.

12.Beighton P, Hamersma H, Raad M. Oculodentoosseous dysplasia: heterogeneity or variable expression? Clin Genet 1979;16: 169.

13.Bellows RA, Lahav M, Lepreau FJ, Albert M. Ocular manifestations of xeroderma pigmentosum in a black family. Arch Ophthalmol 1974;92:113–117.

14.Bergen AAB, Sammans C, Schuurman EJM, et al. Multiplant linkage analysis in X-linked ocular albinism of the Nettleship–Falls type. Hum Genet 1991;88:162–166.

15.Bergen AA, Plomp AS, Schuurman EJ, et al. Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat Genet 2000;25:228–231.

16.Bick D, Curry CJR, McGill JR, Schorderet DF, Bux, Moore CM. Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion. Am J Med Genet 1989;33:100–107.

17.Bloch B. Eigentumliche, bisher nicht beschriebene Pigment-affektion (incontinentia pigmenti). Schweiz Med Wochenchr 1926;56:404.

18.Boileau C, Jondeau G, Babron M-C, et al. Autosomal dominant Marfan-like conneective tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin gene. Am J Hum Genet 1993;53:46–54.

274HANDBOOK OF PEDIATRIC EYE AND SYSTEMIC DISEASE

19.Bracken P, Coll P. Homocystinuria and schizophrenia. Literature review and case report. J Nerv Ment Dis 1985;173:51–55.

20.Brailey WA. Double microphthalmos with defective development of iris, teeth, and anus: glaucoma at an early age. Tr Ophthalmol Soc UK 1890;10:139.

21.Braverman N, Steel G, Obie C, et al. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nat Genet 1997;15:369–376.

22.Braverman N, Lin P, Moebius FF, et al. Mutations in the gene encoding 3 beta-hydroxyseroid-delta(8), delta(7)-isomerase cause X- linked dominant Conradi–Hunermann syndrome. Nat Genet 1999; 22:291–294.

23.Brodrick JD, Dark AJ. Corneal dystrophy in Cockayne’s syndrome. Br J Ophthalmol 1973;57:391.

24.Burgdorf WH, Dick GF, et al. Focal dermal hypoplasia in a father and daughter. J Am Acad Dermatol 1981;4:273–277.

25.Burian AM, Allen L. Histologic study of patients with Marfan’s syndrome. Arch Ophthalmol 1961;65:323–333.

26.Byers PH, Wallis CA, Willing MC. Osteogenesis imperfecta: translation of mutation to phenotype. J Med Genet 1991;28:433–442.

27.Byers PH. Osteogenesis imperfecta. In: Riyce BM, Steinmann B (eds). Connective tissue and its heritable disorders: molecular, genetic and medical aspects. New York: Wiley-Liss, 1993:317– 350.

28.Cadera W, Silver MM, Burt L. Juvenile xanthogranuloma. Can J Ophthalmol 1983;18:169–174.

29.Cadle RG, Hall BD, Waziri M. Phenotypic Ehlers–Danlos, type VI with normal lysyl hydroxylase activity and macrocephaly (Abstract). Am J Hum Genet 1985;37:A48.

30.Cameron JA, Cotter JB, Risco JM, Alvarez H. Epikeratoplasty for keratoglobus associated with blue sclera. Ophthalmology 1991;98: 446–452.

31.Carey JC, Hall BD. Confirmation of the Cohen syndrome. J Pediatr 1978;93:239–244.

32.Carney RG Jr. Incontinentia pigmenti. A world statistical analysis. Arch Dermatol 1976;112:535–542.

33.Carney RG. Incontinentia pigmenti. A report of five cases and review of the literature. Arch Dermatol Syphilol 1951;64:126–135.

34.Catalano RA. Incontinentia pigmenti. Am J Ophthalmol 1990;110: 696–700.

35.Catalano RA, Lopatynsky M, Tasman WS. Treatment of proliferative retinopathy associated with incontinentia pigmenti. Am J Ophthalmol 1990;110:701–702.

36.Chan CC, Green WR, de la Cruz ZC, et al. Ocular findings in osteogenesis imperfecta congenita. Arch Ophthalmol 1982;100: 1459–1463.

37.Clarkson JG, Altman RD. Angioid streaks. Surv Ophthalmol 1982; 26:235–246.

CHAPTER 5: CONNECTIVE TISSUE, SKIN, AND BONE DISORDERS

275

38.Claxton RC. Review of 31 cases of Stevens–Johnson syndrome. Med J Aust 1963;1:963.

39.Coccia PF, Krivit W, Cervenka J, et al. Successful bone-marrow transplantation for infantile malignant osteopetrosis. N Engl J Med 1980;302:701.

40.Cockayne EA. Dwarfism with retinal atrophy and deafness. Arch Dis Child 1936;11:1.

41.Cockayne EA. Dwarfism with retinal atrophy and deafness. Arch Dis Child 1946;21:52.

42.Cohen MM, Hall BD, Smith DW, Graham CB, Lampert KJ. A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular and limb anomalies. J Pediatr 1973;83:280–284.

43.Coles W. Ocular manifestations of Cockayne’s syndrome. Am J Ophthalmol 1969;67:762.

44.Collins TE. Cases with symmetrical congenital notch in the outer part of each lower lid and defective development of the malar bone. Tr Ophthalm Soc UK 1900;20:190–192.

45.Collod G, Babron M-C, Jondeau G, et al. A second locus for Marfan syndrome maps to chromosome 3p24.2–p25. Nat Genet 1994;8: 264–268.

46.Connor PJ, Juergens JL, Perry HO, et al. PXE and angioid streaks. A review of 106 cases. Am J Med 1961;30:53.

47.Conradi E. Vorzeitiges Auftreten von Knochenunjd eigenartigen Verkalkungskernen bei Chondrodystrophia foetalis hypoplastica. Jahrb Kinderheilkd 1914;80:86.

48.Cooper PH, Frierson HF, Kayne AL, et al. Association of juvenile xanthogranuloma with juvenile myeloid leukemia. Arch Dermatol 1984;120:371–375.

49.Crolla JA, Gilgenkrantz S, de Grouchy J, Kajii T, Bobrow M. Incontinentia pigmenti and X-autosome translocations: non-isotopic in situ hybridization with an X-centromere-specific probe (p SV2X5) reveals a possible X-centromeric breakpoint in one of five published cases. Hum Genet 1989;81:269–272.

50.Cross HE, Jensen AD. Ocular manifestations in the Marfan syndrome and homocystinuria. Am J Ophthalmol 1973;75:405– 420.

51.Cullison D, Abele DC, O’Quinn JL. Localized exogenous ochronosis. J Am Acad Dermatol 1983;8:882–889.

52.Curry CJR, Magenis RE, Brown M, et al. Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome. N Engl J Med 1984;311:1010–1015.

53.Dabbagh O, Swaimann KF. Cockayne syndrome. MRI correlates of demyelination. Pediatr Neurol 1988;3:113–116.

54.De Toni T, Cafiero V. Sexual development in a girl with Cohen syndrome. J Pediatr 1982;100:1001–1002.

55.DeWeerd-Kastelein EA, Keijzer W, Bootsma D. Genetic heterogeneity of xeroderma pigmentosum demonstrated by somatic cell hybridization. Nature (Lond) 1972;238:80–83.

276HANDBOOK OF PEDIATRIC EYE AND SYSTEMIC DISEASE

56.Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature (Lond) 1991;352:337–339.

57.Dietz HC, Pyerritz RE, Hall BD, et al. The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15–q21.3. Genomics 1991;9:355–361.

58.Dudgeon J, Chisholm IA. Oculo-dento-digital dysplasia. Trans Ophthalmol Soc UK 1974;94:203.

59.Dutton JJ, Anderson RL, Schelper RL, et al. Orbital malignant melanoma and oculodermal melanocytosis: report of two cases and review of the literature. Ophthalmology 1984;91:497–507.

60.Dvorak-Theobald G. Histologic eye findings in arachnodactyly. Am J Ophthalmol 1941;24:1132–1137.

61.De Paepe A, Viljoen D, Matton R, et al. Pseudoxanthoma elasticum: similar autosomal recessive subtye in Belgian and Afrikaner families. Am J Med Genet 1991;38:16–20.

62.Drager UC. Albinism and visual pathways. N Engl J Med 1986;314: 1636–1638.

63.Eddy DD, Farber EM. Pseudoxanthoma elasticum. Internal manifestations: a report of cases and a statistical review of the literature. Arch Dermatol 1962;86:729–740.

64.El-Hefnawi H, Mortada A. Ocular manifestations of xeroderma pigmentosum. Br J Dermatol 1965;77:261–276.

65.Eustis S. Rhizomelic chondrodysplasia punctata. J Pediatr Opthalmol Strabism.

66.Fara M, Gorlin RJ. The question of hypertelorism in oculodentoosseous dysplasia [Letter]. Am J Med Genet 1981;10:101.

67.Farnsworth PN, Burke P, Dotto ME, et al. Ultrastructural abnormalities in Marfan’s syndrome lens. Arch Opthalmol 1977;95: 1601–1606.

68.Feinberg A, Menter MA. Focal dermal hypoplasia (Goltz syndrome) in a male: a case report. S Afr Med J 1976;50:554–555.

69.Fernandez-Canon JM, Granadino B, Beltran-Valero de Bernabe D, et al. The molecular basis of alkaptonuria. Nat Genet 1996;14:19–24.

70.Ferre P, Fournet JP, Courpotin C. Le syndrome de Cohen, une affection autosomique recessive? Arch Fr Pediatr 1982;39:159–180.

71.Feuerstein RC, Mims LC. Linear nevus sebaceus with convulsions and mental retardation. Am J Dis Child 1962;104:675–679.

72.Fischer E, Keijzer W, Thelmann HW, et al. A ninth complementation group in xeroderma pigmentosum, XP I. Mutat Res 1985;145: 217–225.

73.Fitzpatrick TB, Zeller R, Kukita A, Kitamura H. Ocular and dermal melanocytosis. Arch Ophthalmol 1956;56:830–832.

74.Foster CS, Fong LP, Azar D, et al. Episodic conjunctival inflammation after Stevens–Johnson syndrome. Ophthalmology 1988;95: 453–462.

75.Foster CS. Erythema multiforme. In: Gold DH, Weingeist TA (eds) The eye in systemic disease. Philadelphia: Lippincott, 1990:637–638.

CHAPTER 5: CONNECTIVE TISSUE, SKIN, AND BONE DISORDERS

277

76.Franceschetti A, Klein D. The mandibulo-facial dysostosis: a new hereditary syndrome. Acta Ophthalmol 1949;27:143–224.

77.François J. Incontinentia pigmenti (Block–Sulzberger syndrome) and retinal changes. Br J Ophthalmol 1984;68:19–25.

78.François J, Deweer JP. Albinisme oculaire lie au sexe et alterations caracteristiques du fond d’oeil chez les femmes heterozygotes. Ophthalmologica 1953;126:209–221.

79.Francomano CA, Liberfarb RM, Hirose T, et al. The Stickler syndrome is closely linked to COL 2A1, the structural gene for tye II collagen. Pathol Immunopathol Res 1988;7:104–106.

80.Francomano CA, Liberfarb RM, Hirose T, et al. The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen. Genomics 1987;1:293–296.

81.Freedman J. Xeroderma pigmentosum and band-shpaed nodular corneal dystrophy. Br J Ophthalmol 1977;61:96–100.

82.Friedman E, Sack J. The Cohen syndrome: report of five new cases and a review of the literature. J Craniofacial Genet Dev Biol 1982;2: 193–200.

83.Freire-Maia N, Pinheiro M. Ectodermal dysplasias: a clinical and genetic study. New York: Liss, 1984.

84.Fryer AE, Upadhyaya M, Littler M, et al. Exclusion of COL 2A1 as a candidate gene in a family with Wagner–Stickler syndrome. J Med Genet 1990;27:91–93.

85.Fryns JP, Legius E, Dereymaeker AM, Van Den Bergh H. EEC syndrome without ectrodactyly: report of two new families. J Med Genet 1990;27:165–168.

86.Gaasterland DE, Rodrigues MM, Moshell AN. Ocular involvement in xeroderma pigmentosum. Ophthalmology 1982;89:980–986.

87.Giebel LB, Tripathi RK, Strunk KM, et al. Tyrosinase gene mutations associated with type IB (“yellow”) oculocutaneous albinism. Am J Hum Genet 1991;48:1159–1167.

88.Gilgenkrantz S, Mitchell G, Frezal J, et al. Linkage studies do not confirm the cytogenic location of incontinentia pigmenti on Xp11. Hum Genet 1988;80:282.

89.Giller H, Kaufmann WC. Ocular lesions in xeroderma pigmentosum. Am J Ophthalmol 1959;62:130–133.

90.Gillespie FD. A hereditary syndrome: “dysplasia oculodentodigitalis.” Arch Ophthalmol 1964;71:187.

91.Glesby MJ, Pyeritz RE. Association of mitral valve prolapse and systemic abnormalities of connective tissue. A phenotypic continuum. JAMA 1989;262:523–528.

92.Goldberg MF. The blinding mechanisms of incontinentia pigmenti. Ophthalmic Genet 1994;15:69–76.

93.Goltz RW, Peterson WC, Gorlin RJ, Ravits HG. Focal dermal hypoplasia. Arch Dermatol 1962;86:708–717.

94.Goltz RW, et al. Focal dermal hypoplasia syndrome: a review of the literature and report of two cases. Arch Dermatol 1970;101:1– 11.

278HANDBOOK OF PEDIATRIC EYE AND SYSTEMIC DISEASE

95.Goltz RW. Focal dermal hypoplasia syndrome: an update [Editorial]. Arch Dermatol 1992;128:1108–1111.

96.Goodman RM, Smith EW, Paton D, et al. Pseudoxanthoma elasticum: a clinical study and histopathological study. Medicine (Baltim) 1963;42:297–334.

97.Gorlin RJ, Meskin LH, Geme JW. Oculodentodigital dysplasia. J Pediatr 1963;63:69.

98.Gorlin RJ, L’Heureux PR, Shapiro I. Weill–Marchesani syndrome in

two generations: genetic heterogeneity or pseudodominance? J Pediatr Ophthalmol Strabismus 1974;11:139–144.

99.Gorski JL, Burright EN, Harnden CE, Stein CK, Glover TW, Reyner EL. Localization of DNA sequences to a region within xp11.21 between incontinentia pigmenti (IP1) X-chromosomal translocation breakpoints. Am J Hum Genet 1991;48:53–64.

100.Gott VL, Pyeritz RE, Magovern GJ Jr, et al. Surgical treatment of aneurysm of the ascending aorta in the Marfan syndrome: results of composite-graft repair in 50 patients. N Engl J Med 1986;314: 1070–1074.

101.Gruber MA, Graham TP Jr, Engel E. Marfan syndrome with contractural arachnodactyly and severe mitral regurgitation in a premature infant. J Pediatr 1978;93:80–82.

102.Gutmann DH, Brooks ML, Emanuel BC, McDonald-McGinn DM, Zackai EH. Congenital nystagmus in a (46XX/45X) mosaic woman from a family with X-linked congenital nystagmus. Am J Hum Genet 1991;39:167–169.

103.Guttierez-Diaz A, Alonso MJ, Borda M. Oculodentodigital dysplasia. Ophthalmic Paediatr Genet 1982;1:227.

104.Hahnel R, Hahnel E, Wysocki SJ, Wilkinson SP, Hockey A. Prenatal diagnosis of X-linked ichythosis. Clin Chim Acta 1982;120:143– 152.

105.Happle R. X-linked dominant chondrodysplasia punctata. Review of the literature and report of a case. Hum Genet 1979;53:65–73.

106.Happle R, Lenz W. Striation of bones in focal dermal hypoplasia: manifestation of mosaicism? Br J Dermatol 1977;96:133–138.

107.Harris A, Lankester S, Haan E, et al. The gene for incontinentia pigmenti: failure of linkage studies using DNA probes to confirm cytogenic localization. Clin Genet 1988;34:1.

108.Hausser I, Anton-Lamprecht I. Early preclinical diagnosis of dominant pseudoxanthoma elasticum by specific ultrastructural changes of dermal elastic and colagen tissue in a family at risk. Hum Genet 1991;87:693–700.

109.Hermann J, France T, Spranger JW, Opitz JM, Wiffler C. The Stickler syndrome (hereditary arthro-ophthalmopathy). BDOAS 1975; XI(2):76–103.

110.Hermansky F, Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigment reticular cells in the bone marrow: report of two cases with histochemical studies. Blood 1959;14: 162.

CHAPTER 5: CONNECTIVE TISSUE, SKIN, AND BONE DISORDERS

279

111.Heymans HSA, Oorthuys JWE, Nelck G, Wanders RJA, Schutgens RBH. Rhizomelic chondrodysplasia punctata: another peroxisomal disorder. N Engl J Med 1985;313:187–188.

112.Heymans HSA, Oorthuys JWE, Nelck G, Wanders RJA, Dingemans KP, Schutgens RBH. Peroxisomal abnormalities in rhizomelic chondrodysplasia punctata. J Inherit Metab Dis Suppl 1986;2:329– 331.

113.Hoar DI, Waghorne C. DNA repair in Cockayne syndrome. Am J Hum Genet 1978;30:590.

114.Holden JD, Akers WA. Goltz’s syndrome: focal dermal hypoplasia, A combined mesoectodermal dysplasia. Am J Dis Child 1967;114: 292–300.

115.Hollister DW, Godfrey M, Sakai LY, Pyeritz RE. Immunohistologic abnormalities of the microfibrilllar fiber system in the Marfan syndrome. N Engl J Med 1990;323:152–159.

116.Holmes LB, Walton DS. Hereditary microcornea, glaucoma and absent frontal sinuses: a family study. J Pediatr 1969;74:968.

117.Holmes RD, Wilson GN, Hajra AK. Peroxisomal enzyme deficiency in the Conradi–Hunermann form of chondrodysplasia punctata. N Engl J Med 1987;316:1608.

118.Huang S, Steel H, Kumar G, et al. Ultrastructural changes of elastic fibers in pseudoxanthoma elasticum: a study of histogenesis. Arch Pathol 1967;83:108.

119.Hull DS, Aaberg TM. Fluorescein study of a family with angioid streaks and pseudoxanthoma elasticum. Br J Ophthalmol 1974;58: 738–745.

120.Hunermann C. Chondrodystrophia calcificans congenita als abortive Form der Chondrodystrophie. Z Kinderheilkd 1931;51:1.

121.Hyams SW, Dar H, Neumann E. Blue sclerae and keratoglobus. Ocular signs of a connective tissue disorder. Br J Ophthalmol 1969; 53:53–58.

122.Iqbal A, Alter M, Lee SH. PXE: a review of neurological complications. Ann Neurol 1978;4:18–20.

123.Izquierdo N, Traboulsi EI, Enger S, Maumenee IH. Glaucoma in the Marfan syndrome. Trans Am Ophthalmol Soc 1992;90:111– 122.

124.Izquierdo N, Traboulsi EI, Enger C, Maumenee IH. Strabismus in the Marfan syndrome. Am J Ophthalmol 1994;117:632–635.

125.Jalali S, Boghani S, Vemuganti GK, Ratnakar KS, Rao GN. Penetrating keratoplasty in xeroderma pigmentosum. Case reports and review of the literature. Cornea 1994;13:527–533.

126.Jay B, Blach RH, Wells RS. Ocular manifestations of ichthyosis. Br J Ophthalmol 1968;52:217–226.

127.Jay B, Witkop CJ, King RA. Albinism in England. Birth Defects Orig Artic Ser 1982;18(6):319–329.

128.Jensen AD, Cross HE. Ocular complications in the Weill–March- esani syndrome. Am J Ophthalmol 1974;77:261–269.

129.Jones EW, Heyl T. Naevus sebaceus. Br J Dermatol 1970;82:99–117.

280HANDBOOK OF PEDIATRIC EYE AND SYSTEMIC DISEASE

130.Judisch GF, Martin-Casals A, Hanson JW, Olin WH. Oculodentodigital dysplasia: four new reports and a literature review. Arch Ophthalmol 1979;97:878.

131.Judisch GF, Waziri M, Krachmer FH. Ocular Ehlers–Danlos syndrome with normal lysyl hydroxylase. Arch Ophthalmol 1976;94: 1489–1491.

132.Kahler SG, Burns JA, Aylsworth AS. A mild autosomal recessive form of osteopetrosis. Am J Med Genet 1984;17:451.

133.Kainulainen K, Pulkinen L, Savolainen A, Kaitila I, Peltonen L. Location on chromosome 15 of the gene defect causing Marfan syndrome. N Engl J Med 1990;323:935–939.

134.Kaiser-Kupfer MI, McCain L, Shapiro JR, et al. Low ocular rigidity in patients with osteogenesis imperfecta. Investig Ophthalmol Vis Sci 1981;20:807–809.

135.Kadrnka-Lovrencic M, Jurkovic S, Reiner-Banovac Z, Najman E, Lovrencic M. Dysplasia oculodentodigitalis. Monatsschr Kinderheilkd 1973;121:595.

136.Katz B, Wiley CA, Lee VW. Optic nerve hypoplasia and the syndrome of nevus sebaceous of Jadassohn. A new association. Ophthalmology 1987;94:1570–1576.

137.Khalil M. Subhyaloid hemorrhage in osteogenesis imperfecta tarda. Can J Ophthalmol 1983;18:251–252.

138.King RA, Olds DP. Hairbulb tyrosinase activity in oculocutaneous albinism: suggestions for pathway control and block location. Am J Med Genet 1985;20:49–55.

139.Keith CG. Retinal atrophy in osteopetrosis. Arch Ophthlalmol 1968;79:234.

140.Key L, Carnes D, Cole S, et al. Treatment of congenital osteopetrosis with high-dose calcitriol. N Engl J Med 1984;310:409.

141.King RA, Mentnik MM, Oetting WS. Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism. Mol Biol Med 1991; 8:19–29.

142.Kinnear PE, Jay B, Witkop CJ Jr. Albinism. Surv Ophthalmol 1985; 30:75–101.

143.Kloepfer HW, Rosenthal JW. Possible genetic carriers in the spherophakia-brachymorphia syndrome. Am J Hum Genet 1955;7: 398–419.

144.Knobloch WH, Layer JM. Clefting syndromes associated with retinal detachment. Am J Ophthalmol 1972;73:517.

145.Kousseff BG. Cohen syndrome: further delineation and inheritance. Am J Med Genet 1981;9:25–30.

146.Kraemer KH, Lee MM, Scotto J. Xeroderma pigmentosum: cutaneous, ocular and neurologic abnormalities in 830 published cases. Arch Dermatol 1987;123:241–250.

147.Kraemer KH, et al. Prevention of skin cancer in xeroderma pigmentosum with the use of oral isotretinoin. New Engl J Med 1988; 318:1633–1637.

CHAPTER 5: CONNECTIVE TISSUE, SKIN, AND BONE DISORDERS

281

148.Kraemer KH, Slor H. Xeroderma pigmentosum. Clin Dermatol 1985;3:33–69.

149.Kraus JP, et al. Cloning and screening of nanogram amounts of immunopurified mRNAs: cDNA cloning and chromosomal mapping of cystathionine beta-synthase and the beta subunit of propionylCoA carboxylase. Proc Natl Acad Sci USA 1986;83:2047–2051.

150.Krupin T, Sly WS, Whyte MP, et al. Failure of acetazolamide to decrease intraocular pressure in patients with carbonic anhydrase II deficiency. Am J Ophthalmol 1985;99:396.

151.LaDu BN. Alcaptonuria. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease. New York: McGraw-Hill, 1989:775–790.

152.Lambert HM, Sipperley JO, Shore JW, et al. Linear nevus sebaceus syndrome. Ophthalmology 1987;94:278–282.

153.Lambert WC. Genetic diseases associated with DNA and chromosomal instability. Dermatol Clin 1987;5:85.

154.Le Saux O, Urban Z, Tschuch C, et al. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat Genet 2000;25:223–227.

155.Lebwoh MG, Distefano D, Prioleau PG, et al. Pseudoxanthoma elasticum and mitral valve prolapse. N Eng J Med 1982;307:228– 231.

156.Lebwohl M, Phelps RG, Yannuzzi L, Chang S, Schwartz I, Fuchs W. Diagnosis of pseudoxanthoma elasticum by scar biopsy in patients without characteristic skin lesions. N Engl J Med 1987;317:347–350.

157.Lee S-T, Nicholls RD, Bundey S, Laxova R, Musarella M, Spritz RA. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader–Willi syndrome plus albinism. N Engl J Med 1994;330:529–534.

158.Lehmann AR. Three complementation groups in Cockayne syndrome. Mutat Res 1982;106:347.

159.Lehmann AR, et al. Prenatal diagnosis of Cockayne syndrome. Lancet 1985;1:486.

160.Levin LS, Salinas CF, Jorgenson RJ. Classification of osteogenesis imperfecta by dental characteristics. Lancet 1978;1:332–333.

161.Levin PS, Green WR, Victor DI, MacLean AL. Histopathology of the eye in Cockayne syndrome. Arch Ophthalmol 1983;101:1093.

162.Levine RE, Snyder AA, Sugarman GI. Ocular involvement in chondrodysplasia punctata. Am J Ophthalmol 1974;77:851–859.

163.Liberfarb RM, Goldblatt A. Prevalence of mitral-valve prolapse in the Stickler syndrome. Am J Med Genet 1986;24:387–392.

164.Lowry RB. Early onset of Cockayne syndrome. Am J Med Genet 1982;13:209.

165.Macsai MS, Lemley HL, Schwartz T. Management of oculus fragilis in Ehlers–Danlos type VI. Cornea 2000;19:104–107.

166.Magid D, Pyeritz RE, Fishman EK. Musculoskeletal manifestations of the Marfan syndrome: radiologic features. Am J Radiol 1990;155: 99–104.

282HANDBOOK OF PEDIATRIC EYE AND SYSTEMIC DISEASE

167.Manzke H, Christophers E, Wiedemann H-R. Dominant sex-linked inherited chondrodysplasia punctata: a distinct type of chondrodysplasia punctata. Clin Genet 1980;17:97–107.

168.Marchesani O. Brachydaktylie und angeborene Kugellinse als Systemerk-rankung. Klin Monatsbl Augenheilk 1939;103:392–406.

169.Marfan AB. Un cas de deformation congenitale des quatres membres, plus prononcee aux extremites, characterisee par l’allongement des os, avec un certain degre d’amincissement. Bull Mem Soc Med Hop (Paris) 1896;13:220–226.

170.Marsalese DL, Moodie DS, Vacante M, et al. Marfan’s syndrome: natural history and long-term follow-up of cardiovascular involvement. J Am Coll Cardiol 1989;14:422–428.

171.Maslen CL, Corson GM, Maddox BK, Glanville RW, Sakai LY. Partial sequence of a candidate gene for the Marfan syndrome. Nature (Lond) 1991;352:334–337.

172.Maumenee IH. The eye in the Marfan syndrome. Trans Am Ophthalmol Soc 1981;79:696–733.

173.Maumenee IH. Vitreoretinal degeneration: a sign of generalized connective tissue diseases. Am J Ophthalmol 1979;88:432–439.

174.Maumenee IH, et al. The Wagner syndrome versus hereditary arthroophthalmopathy. Trans Am Ophthalmol Soc 1982;80:349–365.

175.Maumenee IH, Traboulsi EI. The ocular findings in Kniest dysplasia. Am J Ophthalmol 1985;100:155–160.

176.Mayatepek E, Kallas K, Anninos A, Muller E. Effects of ascorbic acid and low-protein diet in alkaptonuria. Eur J Pediat 1998;157: 867–868.

177.McDermott ML, Holladay J, Liu D, Puklin JE, Shin DH, Cowden JW. Corneal topography in Ehlers–Danlos syndrome. J Cataract Refract Surg 1998;24:1212–1215.

178.McGavic JS. Weill–Marchesani syndrome. Am J Ophthalmol 1966; 62:820–823.

179.McKusick VA. Multiple forms of the Ehlers–Danlos syndrome. Arch Surg 1974;109:475–476.

180.Mendez HMM, Paskulin GO, Vallandro C. The syndrome of retinal pigmentary degeneration, microcephaly, and severe mental retardation (Mirhosseini–Holmes–Walton syndrome): report of two cases. Am J Med Genet 1985;22:223–228.

181.Mevorah B, Frenk E, Muller CR, Propers HH. X-linked recessive ichthyosis in three sisters: evidence for homozygosity. Br J Dermatol 1981;105:711–717.

182.Meyer JC, Groh V, Giger V, Weiss H, Varbelow H, Schnyder VW. Rapid laboratory diagnosis of X-linked ichthyosis. Dermatologica 1982;164:249–257.

183.Meyer-Schwikerath G, Gruterch E, Weyers H. Mikrophthalmussyndrome. Klin Monatsbl Augenheilkd 1957;131:18.

184.Migeon BR, Axelman J, Jan de Beur S, Valle D, Mitchell GA, Rosenbaum KN. Selection against lethal alleles in females heterozygous for incontinentia pigmenti. Am J Hum Genet 1989;4:100.