Congenital cataract and multisystem disorders

Eye (Basingstoke)

Volumn 13, Issue 3, 1999, Pages 464-473

  Cassidy, Lorraine ^a   Taylor, David ^a  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

Congenital cataract; Dermatological disease; Dysmorphic; Hydrocephalus; Microcephaly; Polydactyly; Short stature

Indexed keywords

ARTICLE; CHILD; CONGENITAL CATARACT; DIAGNOSTIC ACCURACY; GENETICS; HUMAN; HYDROCEPHALUS; INFANT; MICROCEPHALY; POLYDACTYLY; PROGNOSIS; SHORT STATURE; SKIN DISEASE;

EID: 0032773077     PISSN: 0950222X     EISSN: 14765454     Source Type: Journal    
DOI: 10.1038/eye.1999.123     Document Type: Article

References (108)

1. Winter RM, Baraitser M. Oxford medical databases. Dysmorphology database. 1998.
2. Berk AT, Saatci AO, Ercal MD, Tunc M, Ergin M. Ocular findings in 55 patients with Down’s syndrome. Ophthalmic Genet 1996;17:15-9.
3. Catalano RA. Down syndrome. Surv Ophthalmol 1990;34:385-98.
4. Pires da Cunha R, De Castro Moreira JB. Ocular findings in Down’s syndrome. Am J OphthalmoI1996;122:236-44.
5. Roizen NJ, Mets MB, Blondis TA. Ophthalmic disorders in children with Down syndrome. Dev Med Child Neurol 1994;36:594-600.
6. Lowe R. The eyes in mongolism. Br J Ophthalmol 1949;33:134-54.
7. Merin S, Crawford JS. The etiology of congenital cataracts: a survey of 386 cases. Can J Ophthalmol 1971;6:178-82.
8. Cohen MM Jr. Hallermann-Streiff syndrome: a review. Am J Med Genet 1991;41:488-99.
9. Dennis NR, Fairhurst J, Moore IE. Lethal syndrome of slender bones, intrauterine fractures, characteristic facial appearance, and cataracts, resembling Hallermann-Streiff syndrome in two sibs. Am J Med Genet 1995;59:517-20.
10. François J. François dyscephalic syndrome. Birth Defects 1982;18:595-619.
11. Falls HF, Schull WJ. Hallermann-Streiff syndrome: a dyscephaly with congenital cataracts and hypotrichosis. Arch Ophthalmol 1960;63:419-20.
12. Wolter JR. Jones DH. Spontaneous cataract reabsorption in Hallermann Streiff syndrome. Ophthalmologica 1965;150:401-8.
13. Sugar A, Bigger JF, Podos SM. Hallermann-Streiff-Frano;ois syndrome. J Pediatr 1971;8:234-8.
14. Charnas LR, Gahl WA. The oculocerebrorenal syndrome of Lowe. Adv Pediatr 1991;38:75-102.
15. Kenworthy L, Charnas L. Evidence for a discrete behavioural phenotype in the oculocerebrorenal syndrome of Lowe. Am J Med Genet 1995;59:283-90.
16. Tripathi RC, Cibis GW, Tripathi BJ. Pathogenesis of cataracts in patients with Lowe’s syndrome. Ophthalmology 1986;93:1046-51.
17. Wadelius C, Fagerholm P, Pettersson V, Anneren G. Lowe oculocerebrorenal syndrome: DNA-based linkage of the gene to Xq24-q26 using tightly linked flanking markers and the correlation to lens examination in carrier diagnosis. Am J Hum Genet 1989;44:241-7.
18. Fagerholm P, Anneren G, Wadelius C. Lowe’s oculocerebrorenal syndrome variation in lens changes in the carrier state. Acta Ophthalmol 1991;69:102-4.
19. Cibis GW, Waeltermann JM, Whitcraft CT, Tripathi RC, Harris DJ. Lenticular opacities in carriers of Lowe’s syndrome. Ophthalmology 1986;93:1041-5.
20. Johnston SS, Nevin NC. Ocular manifestations in patients and female relatives of families with the oculocerebrorenal syndrome of Lowe. Birth Defects 1976;12:569-77.
21. Lavin CW, McKeown CA. The oculocerebrorenal syndrome of Lowe. Int Ophthalmol Clin 1993;33:179-91.
22. Moraes CT, Zeviani M, Schon EA, Hickman RO, Vlcek BW, DiMauro S. Mitochondrial DNA deletion in a girl with manifestations of Kearns-Sayre and Lowe syndromes: an example of phenotypic mimicry? Am J Med Genet 1991;41:301-5.
23. Nance WE, Warburg M, Bixler D, Helveston EM. Congenital X-linked cataract, dental anomalies and brachymetacarpalia. Birth Defects 1974;10:285-91.
24. Horan MB, Billson FA. XClinked cataract and Hutchinsonian teeth. Aust Pediatr J 1974;10:98-102.
25. Van Dorp DB, Delleman JW. A family with X-chromosomal recessive congenital cataract, microphthalmia, a peculiar form of the ear and dental anomalies. J Pediatr Ophthalmol Strabismus 1979;16:166-71.
26. Gibbs ML, Jacobs M, Wilkie AOM, Taylor D. Posterior lenticonus: clinical patterns and genetics. J Pediatr Ophthalmol Strabismus 1993;30:171-5.
27. Lewis RA, Nussbaum RL, Stambolian D. Mapping X-linked ophthalmic diseases. IV. Provisional assignment of the locus for X-linked congenital cataracts and microcornea (the Nance-Homan syndrome) to Xp22.2-22.3. Ophthalmology 1990;97:110-21.
28. Zhu D, Alcorn DM, Antonarakis SE, Levin LS, Huang PC, Mitchell TN, et al. Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome. Hum Genet 1990;86:54-8.
29. Irons M, Elias ER, Salen G, Tint GS, Batta AK. Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome [letter]. Lancet 1993;1;1414.
30. Tint GS, Irons M, Elias ER, Batta AK, Frieden R, Chen TS, et al. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med 1994;330:107-13.
31. Bardelli AM, Lasorella G, Barberi L, Vanni M. Ocular manifestations in Kniest syndrome, Smith-Lemli-Opitz syndrome, Hallermann-Streiff-Fram;ois syndrome, Rubinstein-Taybi syndrome and median cleft face syndrome. Ophthalmic Paediatr Genet 1985;6:343-7.
32. Kretzer FL, Hittner HM, Mehta RS. Ocular manifestations of the Smith-Lemli-Opitz syndrome. Arch Ophthalmol 1981;99:200.
33. Cotlier E, Rice P. Cataracts in the Smith-Lemli-Opitz syndrome. Am J Ophthalmol 1971;72:955-9.
34. Cenedella RJ. Cholesterol and cataracts. Surv Ophthalmol 1996;40:320-37.
35. Finlay SC, Finlay WH, Monsky DM. Cataracts in a girl with features of Smith-Lemli-Opitz syndrome. J Pediatr 1969;75:706-7.
36. Cherstvoy ED, Lazjuk GI, Ostrovskaya TI, Shved IA, Kravtzova GI, Lurie IW, et al. The Smith-Lemli-Opitz syndrome: a detailed pathological study as a clue to an etiological heterogeneity. Virchows Arch A 1984;404:413-25.
37. Donnai D, Young ID, Owen WG, Clark SA, Miller PF, Knox WF. The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs. J Med Genet 1986;23:64-71.
38. McGaughran J, Donnai D, Clayton P, Mills K. Diagnosis of Smith-Lemli-Opitz syndrome [letter]. N Engl J Med 1994;330:1685-6.
39. Abuelo DN, Tint GS, Kelley R, Batta AK, Shefer S, Salen G. Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols. Am J Med Genet 1995;56:281-5.
40. Mills K, Mandel H, Montemagno R, Soothill PW, GershoniBaruch R, Clayton PT. First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency). Pediatr Res 1996;39:816-9.
41. Wilkie AOM, Taylor D, Scrambler PI, Baraitser M. Congenital cataract, microphthalmia and septal heart defect in two generations: a new syndrome? Clin Dysmorphol 1993;2:114-9.
42. Levine RE, Snyder AA, Sugarman GI. Ocular involvement in chondrodysplasia punctata. Am J Ophthalmol 1974;77:851-8.
43. Happle R. Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata. Clin Genet 1981;19:64-6.
44. Pike MG, Applegarth DA, Dunn HG, Bamforth SI, Tingle AJ, Wood BJ, et al. Congenital rubella syndrome associated with calcific epiphyseal stippling and peroxisomal dysfunction. J Pediatr 1990;116:88-94.
45. Poll The BT, Maroteaux P, Narcy C, Quetin P, Guesnu M, Wanders RJ, et al. A new type of chondrodysplasia punctata associated with peroxisomal dysfunction. J Inherit Metab Dis 1991;14:361-3.
46. Smeitink JAM, Beemer FA, Espeel M, Donckerwolcke RA, Jakobs C, Wanders RJ, et al. Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresis. J Inherit Metab Dis 1992;15:377-80.
47. Nuoffer JM, Pfammatter JP, Spahr A, Toplak H, Wanders RI, Schutgens RB, et al. Chondrodysplasia punctata with a mild clinical course. J Inherit Metab Dis 1994;17:6.
48. Begeer JH, Scholte FA, van Essen AJ. Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy. J Med Genet 1991;28:884-5.
49. Schaap C, Taylor D, Baraitser M. Three mildly retarded siblings with congenital cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature: a new syndrome? Clin DysmorphoI1995;4:283-8.
50. Franceschetti A, Marty F, Klein D. Un syndrome rare: heredoataxie avec cataracte congenitale et retard mental. Confinia Neurol 1956;16:271-2.
51. Alter M, Talbert OR, Coffead C. Cerebellar ataxia, congenital cataracts, and retarded somatic and mental maturation. Report of cases of Marinesco-Sjogren’s syndrome. Neurology 1962;12:836-47.
52. Williams TE, Buchhalter JR, Sussman MD. Cerebellar dysplasia and unilateral cataract in Marinesco-Sjogren syndrome. Pediatr Neurol 1996;14:158-61.
53. Dotti MT, Bardelli AM, De Stefano N, Federico A, Malandrini A, Vanni M, et al. Optic atrophy in Marinesco-Sjogren syndrome: an additional ocular feature. Report of three cases in two families. Ophthalmic Paediatr Genet 1993;14:5-7.
54. McLaughlin JF, Pagon RA, Weinberger E, Haas JE. Marinesco-Sjogren syndrome: clinical and magnetic resonance imaging features in three children. Dev Med Child Neurol 1996;38:363-70.
55. Zimmer C, Gosztonyi G, Cervos-Navarro I, von Meers A, Schroder JM. Neuropathy with lysosomal changes in Marinesco-Sjogren syndrome: fine structural findings in skeletal muscle and conjunctiva. Neuropediatrics 1992;23:329-35.
56. Sasaki K, Suga K, Tsugawa S, Sakuma K, Tachi N, Chiba S, et al. Muscle pathology in Marinesco-Sjogren syndrome: a unique ultrastructural feature. Brain Dev 1996;18:64-7.
57. Pena SDI, Shokeir MHK. Autosomal recessive cerebrooculo-facial-skeletal (COFS) syndrome. Clin Genet 1974;5:285-93.
58. Casteels I, Wijnants A, Casaer P, Eggermont E, Misotten L, Fryns JP. Cerebro-oculo-facio-skeletal syndrome: the variability of presenting symptoms as a manifestation of two subtypes. Genet Counsel 1991;2:43-6.
59. Insler MS. Cerebro-oculo-facial-skeletal syndrome. Ann Ophthalmol 1987;19:54-5.
60. Grizzard WS, O’Donnell JJ, Carey JC. The cerebro-oculofacio-skeletal syndrome. Am J Ophthalmol 1980;89:293-8.
61. Patton MA, Giannelli F, Francis AJ, Baraitser M, Harding B, Williams AJ. Early onset Cockayne’s syndrome: case reports with neuropathological and fibroblast studies. J Med Genet 1989;26:154-9.
62. Winter RM, Donnai D, Crawfurd Md’ A. Syndromes of microcephaly, microphthalmia, cataracts, and joint contractures. J Med Genet 1981;18:129-33.
63. Dolman CL, Wright VJ. Necropsy of original case of Lowry’s syndrome. J Med Genet 1978;15:227-9.
64. Reardon W, Hockey A, Silberstein P, Kendall B, Farag TI, Swash M, et al. Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease. Am J Med Genet 1994;52:58-65.
65. Baraitser M, Brett EM, Piesowicz AT. Microcephaly and intracranial calcification in two brothers. J Med Genet 1983;20:210-2.
66. Burn J, Wickramasinghe HT, Harding B, Baraitser M. A syndrome with intracranial calcification and microcephaly in two sibs, resembling intrauterine infection. Clin Genet 1986;30:112-6.
67. Ishitsu T, Chikazawa S, Matsuda I. Two siblings with microcephaly associated with calcification of cerebral white matter. Jpn J Hum Genet 1985;30:213-7.
68. Wieczorek D, Gillessen-Kaesbach G, Passarge E. A ninemonth-old boy with microcephaly, cataracts, intracerebral calcifications and dysmorphic signs: an additional observation of an autosomal recessive congenital infectionlike syndrome? Genet Counseling 1995;6:297-302.
69. Dudgeon JA. Congenital rubella. J Pediatr 1975;87:1078-86.
70. Jain IS, Pillay P, Gangwar DN, Dhir SP, Kaul VK. Congenital cataract: etiology and morphology. J Pediatr Ophthalmol Strabismus 1983;20:238-42.
71. Siegel M, Fuerst HT, Guinee VF. Rubella epidemicity and embryopathy: results of a long-term prospective study. Am J Dis Child 1971;121:469-73.
72. Katz RG, White LR, Sever JL. Maternal and congenital rubella. Clin Pediatr (Phila) 1968;7:323-30.
73. Pike MG, Jan JE, Wong PK. Neurological and developmental findings in children with cataracts. Am J Dis Child 1989;143:706-10.
74. Lambert SR, Taylor D, Kriss A, Holzel H, Heard S. Ocular manifestations of the congenital varicella syndrome. Arch Ophthalmol 1989;107:52-6.
75. Kotchmar GS, Grose C, Brunell P A. Complete spectrum of the varicella congenital defects syndrome in a 5-year-old child. Pediatr Infect Dis 1984;3:142-5.
76. Cotlier E. Congenital varicella cataract. Am J Ophthalmol 1978;86:627-9.
77. Bavinck JNB, Weaver DD, Ellis FD, Ward RE. A syndrome of microcephaly, eye anomalies, short stature and mental deficiency. Am J Med Genet 1987;26:825-3l.
78. Heckmann JM, Carr JA, Bell N. Hereditary sensory and autonomic neuropathy with cataracts, mental retardation, and skin lesions: five cases. Neurology 1995;45:1405-8.
79. Farrell JW, Morgan KS, Black S. Lensectomy in an infant with cri du chat syndrome and cataracts. J Pediatr Ophthalmol Strabismus 1988;25:131-4.
80. Grotsky H, Hsu L Y, Hirschhorn K. A case of cri du chat associated with cataracts and transmitted from a mother with a 4/5 translocation. J Med Genet 1971;8:369-7l.
81. Nieburh E. The cri du chat syndrome: epidemiology, cytogenetics, and clinical features. Hum Genet 1978;44:227-75.
82. Kitsiou Tzeli S, Dellagrammaticas HD, Papas CB, Ladas ID, Bartsocas CS. Unusual ocular findings in an infant with cri-du-chat syndrome. J Med Genet 1983;20:304-7.
83. Crome L, Duckett S, Franklin A W. Congenital cataracts, renal tubular necrosis and encephalopathy in two sisters. Arch Dis Child 1963;38:505-15.
84. Czeizel A, Lowry RB. Syndrome of cataract, mild microcephaly, mental retardation and Perthes-like changes in sibs. Acta Pediatr Hung 1990;30:343-9.
85. Edwards JG, Lampert RP, Hammer ME, Young SR. Ocular defects and dysmorphic features in three generations. J Clin DysmorphoI. 1984;2:8-12.
86. Glaser T, Jepeal L, Edwards JG, Young SR, Favor J, Mass RL. P AX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nature Genet 1994;7:463-7l.
87. Ippel PF, Wittebol-Post D, van Nesslrooij BPM. Sutural cataract, retinitis pigmentosa, microcephaly, and psychomotor retardation. Ophthalmic Genet 1994;15:121-7.
88. Scott-Empakour AB, Heffelfinger J, Higgins JV. A syndrome of microcephaly and cataracts in four siblings. Am J Dis Child 1977;131:167-9.
89. Warburg M, Sjo O, Fledelius HC, Pedersen SA. Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism: micro syndrome. Am J Dis Child 1993;147:1309-12.
90. Seemanova E, Lesny I. X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation, spasticity: possible new syndrome. Am J Med Genet 1996;66:179-83.
91. Ziv Y, Frydman M, Lange E, Zelnik N, Rotman G, Julier C, et al. Ataxia-telangiectasia: linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxiamicrocephaly-cataract syndrome. Hum Genet 1992;88:619-26.
92. Chess J, Albert DM. Ocular pathology of the Majewski syndrome. Br J Ophthalmol 1982;66:736-41.
93. Schachat AP, Maumenee IH. Bardet-Biedl syndrome and related disorders. Arch Ophthalmol 1982;100:285-8.
94. Price VH, Odom RB, Ward WH, Jones FT. Trichothiodystrophy: sulphur-deficient brittle hair as a marker for a neuroectodermal symptom complex. Arch Dermatol 1980;116:1375-84.
95. Chen E, Cleaver JE, Weber CA, Packman S, Barkovich AJ, Koch TK, et al. Trichothiodystrophy: clinical spectrum, central nervous system imaging, and biochemical characterization of two siblings. J Invest Dermatol 1994;103:s154-8.
96. Blomquist HKS, Back O, Fagerlund M, Holmgren G, Stecksen-Blicks C. Tay or ibids syndrome: A case with growth and mental retardation, congenital ichthyosis and brittle hair. Acta Paediatr Scand 1991;80:1241-5.
97. Rizzo R, Pavone L, Micali G, Calvieri S, Di Gregorio L. Trichothiodystrophy: Report of a new case with severe nervous system impairment. J Child Neurol 1992;7:300-3.
98. Battistella P A, Peserico A. Central nervous system dysmyelination in PIDI(D)S syndrome: a further case. Childs Nerv Syst 1996;12:110-3.
99. Sakano T, Okuda N, Yoshlmitsu K, Hatano S, Nishi Y, Tanaka T, et al. A case of Menkes syndrome with cataracts. Eur J Paediatr 1982;138:357-8.
100. Temtamy SA, Sinbawy AHH. Cataract, hypertrichosis, and mental retardation (CAHMR): a new autosomal recessive syndrome. Am J Med Genet 1991;41:432-3.
101. Wallis C, Ip FS, Beighton P. Cataracts, alopecia, and sclerodactyly: a previously apparently undescribed ectodermal dysplasia syndrome on the island of Rodrigues. Am J Med Genet 1989;32:500-3.
102. Devi AS, Eisenfeld L, Uphoff D, Greenstein R. New syndrome of hydrocephalus, endocardial fibroelastosis, and cataracts (HEC syndrome). Am J Med Genet 1995;56:62-6.
103. Lerone M, Romeo G, Conrad E, Silvano S, Cama A, Silengo CM. Multiple sutural synostosis and congenital cataracts. Hum Genet 1991;87:758.
104. Martsolf JT, Hunter AGW, Haworth JC. Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers. Am J Med Genet 1978;1:291-9.
105. Sanchez JM, Barriero C, Freilij H. Two brothers with Martsolf’s syndrome. J Med Genet 1985;22:308-10.
106. Harbord MG, Baraitser M, Wilson J. Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf’s syndrome. J Med Genet 1989;26:397-400.
107. Hennekam RCM, van de Meeberg AG, van Doorne JM, Dijkstra PF, Bijlsm JB. Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance. Eur J Pediatr 1988;147:539-43.
108. Cennamo G, Gangemi M, Magli A. Hydrocephalus combined with congenital cataract and microphthalmia. J Pediatr Ophthalmol Strabismus 1979;16:382-5.