An update on microphthalmos and coloboma: A brief survey of genetic disorders with microphthalmos and coloboma

Ophthalmic Genetics

Volumn 12, Issue 2, 1991, Pages 57-63

  Warburg, Mette ^a  

^a GENTOFTE UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Coloboma syndromes; Congenital defects; Genetic; Malformation; Microphthalmos; Ocular embryology

Indexed keywords

ARTICLE; COLOBOMA; CONGENITAL DISORDER; EYE MALFORMATION; HUMAN; MICROPHTHALMIA;

EID: 84907112423     PISSN: 13816810     EISSN: None     Source Type: Journal    
DOI: 10.3109/13816819109023675     Document Type: Article

References (63)

1. The heterogeneity of microphthalmia in the mentally retarded
2. Genetics of microphthalmos
3. Microphthalmos and malformative syndromes
4. Congenital Blindness
5. Ocular teratology
6. Possible teratogenicity of maternal fever
7. Adverse ocular reactions possibly associated with isoretinoin
8. Coloboma and microphthalmos in chromosomal aberrations. Chromosomal aberrations and neural crest cell developmental field
9. Mendelian Inheritance in Man
10. Microphthalmia and olfactogenital dysplasia: A possible relationship
11. Nager acrofacial dysostosis: evidence for apparent heterogeneity
12. Hereditary cataracts and microphthalmia
13. Congenital cataract with microcornea and Peters’ anomaly as expression of one autosomal dominant gene
14. Familial CHARGE syndrome: Clinical report with autopsy findings
15. Aniridia associated with microcornea and subluxated lenses
16. An autosomal dominant syndrome of uveal colobomata, cleft lip and palate, and mental retardation
17. Ocular defects and dysmorphic features in three generations
18. A propos d’une familie presentant des anomalies oculaires du type colobomateux depuis le colobome unilateral, associe au syndrome Bardet-Biedl
19. Clinical and genetic considerations in familial anophthalmia
20. Colobomatous macrophthalmia with microcornea
21. Congenital contractural arachnodactyly and intraocular colobomas
22. Microcornea with corectopia and macular hypoplasia in a family
23. Dwarfism associated with borderline intelligence, microcephaly, microphthalmia, and vertebral anomalies
24. Hereditary sclerocornea
25. Brief clinical report: A syndrome of microcephaly, eye anomalies, short stature, and mental deficiency
26. Mid face syndrome with iridochoroidal coloboma and deafness in a mother: Microphthalmia in her son
27. Microphthalmos, corneal opacity, mental retardation, and spastic cerebral palsy. An oculo-cerebral syndrome
28. A newly recognized dominantly inherited syndrome: Short stature, ocular and articular anomalies, mental retardation
29. Apparently new oculo-cerebro-acral syndrome
30. ‘C’ Trigonocephaly syndrome: Clinical variability and possibility of surgical treatment
31. Un caso di anoftalmo bilaterale considetto ‘clinico primario’ con micfoblefaro
32. Anophthalmia, microcephaly, hypotonia, hypogenitalism, failure to thrive, and developmental delay
33. Primary anophthalmos; histological and genetic features
34. Frontofacionasal dysplasia: Evidence for autosomal recessive inheritance
35. Guadalajara camplodaclyly syndrome: A distinct probably autosomal recessive disorder
36. Hepatic fibrosis, polycystic kidney, colobomata and encephalopathy in siblings
37. Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis
38. New syndrome of congenital ichthyosis with neurologic abnormalities
39. Minderwuchs, Schwachsinn, praaxiale Polydaktylic vom Typ I mit kolobomatosen Missbildungen: ein neues Syndrom
40. Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome
41. Blepharophimosis, iris coloboma, microgenia, hearing loss, postaxial Polydactyly, aplasia of corpus callosum, hydroureter, and developmental delay
42. A new craniosynostosis/mental retardation syndrome diagnosed by fetoscopy
43. Ectodermal dysplasia – A new variant
44. Unknown syndrome: Hirschsprung’s disease, microcephaly, and iris coloboma: A new syndrome of defective neuronal migration
45. Macrosomia, microphthalmia, cleft palate and early infant death: a new autosomal recessive syndrome
46. Congenital retinal folds and microcephaly
47. Association of bilateral microphthalmos with hypogonadotropic hypogonadism
48. GOMBO syndrome of growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia: a possible ‘new’ recessively inherited MCA/MR syndrome
49. A syndrome of congenital thrombocytopenia with multiple malformations and neurologic dysfunction
50. The Yemenite deaf-blind hypopigmentation syndrome. A new oculo-dermato-auditory syndrome
51. Optic nerve coloboma associated with renal disease
52. Extreme hypermetropia and posterior microphthalmos in three siblings. An oculometric study
53. Nance-Horan syndrome: Localization within the region Xp21-Xp22.3 by linkage analysis
54. Incontinentia pigmenti (Bloch-Sultzberger syndrome): seven case reports from one family
55. Ophthalmic midline dysgenesis in Kallmann syndrome
56. Definitive localization of X-linked Kallmann syndrome (Hypogonadotropic hypogonadism and anosmia) to Xp22.3: Close linkage to the hypervariable repeat sequence CRI-S232
57. X-linked cataract and X-linked microphthalmos: How many deletion families?
58. X-linked microphthalmia syndrome
59. Brief clinical report: Coloboma hypospadias
60. Bilateral microcornea, coloboma, short stature and other skeletal anomalies – a new hereditary syndrome
61. X-linked recessive microencephaly, microphthalmia with corneal opacities, spastic quadriplegia, hypospadias and cryptorchidism
62. Re-evaluation of new X-linked syndrome for evidence of CHARGE syndrome or association