The Cryptophthalmos-Syndactyly Syndrome

Dinno, Nuhad D.; Edwards, W. C.; Weiskopf, Bernard

doi:10.1177/000992287401300303

Cited by 21 publications

(7 citation statements)

References 5 publications

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“…The globe is usually microphthalmic, in abortive cases it can be seen in the lid fissure, and the cornea is then often opaque (9,44,50); in typical cases the globe may be palpated behind the skin. In these cases the lid fissure may be indicated as a furrow with lashes (104) and Maibomian glands, or lashes may be absent medially or totally.…”

Section: A U T O S O M a L R E C E S S I V E Ano P H T H A L M O S -Mmentioning

confidence: 99%

Genetics of microphthalmos

Warburg

1981

Int Ophthalmol

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This is a survey of the genetics of microphthalmos and the heritable syndromes in which microphthalmos occurs. New syndromes are delineated such as the autosomal dominant anophthalmos-microphthalmos-coloboma syndrome, the autosomal dominant microphthalmos, microcephaly, lacunar retinal atrophy syndrome, the autosomal recessive anophthalmos-microphthalmos-coloboma syndrome, the autosomal recessive syndrome with anophthalmos or microphthalmos and genital malformations, and the autosomal recessive syndrome with microphthalmos, microcephaly and retinal falciform folds. Nanophthalmos is described as a poorly defined phenotype and rejected as a genotype. Several other genetic entities with microphthalmos are reviewed and recent descriptions are surveyed.

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Section: A U T O S O M a L R E C E S S I V E Ano P H T H A L M O S -Mmentioning

confidence: 99%

Genetics of microphthalmos

Warburg

1981

Int Ophthalmol

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“…Microscopic evaluation of the lungs showed no evidence of hypoplasia as one might expect in cases of renal agenesis. DISCUSSION We reviewed 89 published cases of Fraser syndrome which met the diagnostic criteria of Thomas et al [1986;Ashley, 1947;Azevedo et al, 1973;Barry and Shortland-Webb, 1980;Begum et al, 1977;Bialer and Wilson, 1988;Bieber et al, 1982;Bierich et al, 1991;Brazier et al, 1986;Brodsky and Waddy, 1940;Butler et al, 1978;Chemke, 1981;Codere et al, 1981;Dinno et al, 1974;Erdener et al, 1990;Gattuso et al, 1987;Ghose et al, 1988;Goldhammer and Smith, 1975;Greenberg et al, 1986;Guhanandhan et al, 1986;Gupta and Gogi, 1981;Gupta and Saxena, 1962;Hing et al, 1990;Howard et al, 1979;Ide, 1975;Ide and Wollschlaeger, 1969;Ishwarchandra and Mulak, 1966;Kapoor, 1979;Key, 1920;Koenig and Spranger, 1986;Levine et al, 1984;McCarthy and West, 1977;Mina et al, 1988;Momma and Biermann, 1977;Mortimer et al, 1985;Pe'er and BenEzra, 1986;Ramsing et al, 1990;Sen, 1977;Serville et al, 1989;…”

Section: Patientmentioning

confidence: 99%

Pulmonary hyperplasia in the Fraser cryptophthalmos syndrome

et al. 1994

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We report on 2 sibs with the Fraser cryptophthalmos syndrome who had pulmonary hyperplasia and laryngeal stenosis. A third unrelated patient with Fraser syndrome had laryngeal stenosis, renal agenesis, and normal lung development, rather than the expected pulmonary hypoplasia. Three additional cases of pulmonary hyperplasia in the Fraser syndrome were ascertained from a review. In all of these cases the likely mechanism for pulmonary hyperplasia is retention of fetal lung fluid by laryngeal or tracheal obstruction.

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“…A large number of characteristic abnormalities in Fraser Syndrome have now been reported (Gupta and Saxena, 1962;Sugar, 1968;Ide and Wollschlaeger, 1969;Dinno et al, 1974;Waring and Shields, 1975;Varneck, 1978;Smith, 1982), and these are listed in Table I.…”

Section: Miscellaneousmentioning

confidence: 99%

ENT manifestations of Fraser syndrome

Ford¹,

Irving²,

Jones³

et al. 1992

J. Laryngol. Otol.

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Fraser Syndrome is a rare autosomal recessive disorder (Gupta and Saxena, 1962; Smith, 1982). The most consistent feature is cryptophthalmos (hidden eye), but frequently abnormalities of the ears (meatal stenosis, dysplastic pinna), nose (hypoplastic notched nares, choanal stenosis or atresia), and larynx (glottic web, subglottic stenosis), as well as numerous other anomalies are encountered. We present four cases that have been treated at the Hospital for Sick Children in the last ten years, and describe the various ENT anomalies characteristic of this syndrome.

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The Cryptophthalmos-Syndactyly Syndrome

Cited by 21 publications

References 5 publications

Genetics of microphthalmos

Genetics of microphthalmos

Pulmonary hyperplasia in the Fraser cryptophthalmos syndrome

ENT manifestations of Fraser syndrome

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