A Hereditary Syndrome: "Dysplasia Oculodentodigitalis"

Gillespie, Frederick D.

doi:10.1001/archopht.1964.00970010203009

Cited by 52 publications

(23 citation statements)

References 2 publications

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“…The chromosome analyses performed on families 975 (Shapiro et al, 1997), 1118 (Rajic and de Veber, 1966), and 2965 (Norton et al, 1995) were normal. Other investigators have also reported normal karyotypes in ODDD patients (Gillespie, 1964;Reisner et al, 1969;Thoden et al, 1977;Beighton et al, 1979;Traboulsi et al, 1986;Battisti et al, 1992;Gutmann et al, 1991;McKiernan and McCann, 1993). Lymphoblastoid cell lines were prepared by immortalization with EBV, and high-molecular-weight leukocyte DNA was isolated from each individual by standard methods.…”

Section: Methodsmentioning

confidence: 99%

Linkage Analysis Narrows the Critical Region for Oculodentodigital Dysplasia to Chromosome 6q22–q23

Boyadjiev¹,

Jabs²,

LaBuda

et al. 1999

Genomics

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Section: Methodsmentioning

confidence: 99%

Linkage Analysis Narrows the Critical Region for Oculodentodigital Dysplasia to Chromosome 6q22–q23

Boyadjiev¹,

Jabs²,

LaBuda

et al. 1999

Genomics

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“…Affected patients manifest: 1) bilateral microcornea, sometimes associated with iris anomalies and glaucoma; 2) syndactyly of the fourth and fifth fingers; 3) facial abnormalities with small nasal alae and anteverted nostrils; and 4) defects in dental enamel [Dudgeon and Chisholm, 1974;Gillespie, 1964;Gorlin et al, 1963;Ragic and de Veber, 1966;Sugar et al, 19661. In some of the reports, affected individuals manifested spastic paraparesis or quadriparesis, hyperreflexia and gait difficulties [Barnard et al, 1981;Beighton et al, 1979;Reisner et al, 1969;Nivelon-Chevallier et al, 19811.…”

Section: Introductionmentioning

confidence: 99%

Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter

et al. 1991

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Oculodentodigital dysplasia (ODDD) syndrome is an uncommon inherited disorder with eye and facial abnormalities, syndactyly, and defects in tooth enamel. Some of the previously reported patients with ODDD syndrome also manifested spastic quadriparesis. We describe a patient with sporadic ODDD syndrome referred for evaluation of progressive spastic paraparesis. Magnetic resonance imaging of the brain demonstrated abnormal white matter, which suggests an explanation for the observed spastic paraparesis.

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“…Mutation of the GJA1 gene in human patients is associated with an autosomal dominant condition called oculodentodigital dysplasia (37). It is characterized by abnormal development of the face, limbs, and dentition (6,18,21,35,39). Neurological symptoms have also been described, sometimes including paraparesis or quadriparesis, gait and bladder disturbances, and hyperreflexia (28).…”

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confidence: 99%

Anatomical phenotyping in the brain and skull of a mutant mouse by magnetic resonance imaging and computed tomography

Nieman

Flenniken

Adamson

et al. 2006

Physiological Genomics

106

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Since genetically modified mice have become more common in biomedical research as models of human disease, a need has also grown for efficient and quantitative methods to assess mouse phenotype. One powerful means of phenotyping is characterization of anatomy in mutant vs. normal populations. Anatomical phenotyping requires visualization of structures in situ, quantification of complex shape differences between mouse populations, and detection of subtle or diffuse abnormalities during high-throughput survey work. These aims can be achieved with imaging techniques adapted from clinical radiology, such as magnetic resonance imaging and computed tomography. These imaging technologies provide an excellent nondestructive method for visualization of anatomy in live individuals or specimens. The computer-based analysis of these images then allows thorough anatomical characterizations. We present an automated method for analyzing multipleimage data sets. This method uses image registration to identify corresponding anatomy between control and mutant groups. Withinand between-group shape differences are used to map regions of significantly differing anatomy. These regions are highlighted and represented quantitatively by displacements and volume changes. This methodology is demonstrated for a partially characterized mouse mutation generated by N-ethyl-N-nitrosourea mutagenesis that is a putative model of the human syndrome oculodentodigital dysplasia, caused by point mutations in the gene encoding connexin 43. image processing; GJA1; connexin 43; oculodentodigital dysplasia.

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A Hereditary Syndrome: "Dysplasia Oculodentodigitalis"

Cited by 52 publications

References 2 publications

Linkage Analysis Narrows the Critical Region for Oculodentodigital Dysplasia to Chromosome 6q22–q23

Linkage Analysis Narrows the Critical Region for Oculodentodigital Dysplasia to Chromosome 6q22–q23

Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter

Anatomical phenotyping in the brain and skull of a mutant mouse by magnetic resonance imaging and computed tomography

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