EdenteV2, Istex, Curation, bibRecord, 000668

Oculodentodigital dysplasia

Identifieur interne : 000668 ( Istex/Curation ); précédent : 000667; suivant : 000669

Oculodentodigital dysplasia

Auteurs : Robert J. Gorlin [États-Unis] ; Lawrence H. Meskin [États-Unis] ; Joseph W. St. Geme [États-Unis]

Source :

The Journal of Pediatrics [ 0022-3476 ] ; 1963.

RBID : ISTEX:0DD7A16592DEABDCC5B1E49BDB16DB8B26E66F62

English descriptors

KwdEn :
- Alveolar ridge, Anomaly, Bilaterally, Bone conduction, Canthal distance, Defective development, Digit, Enamel, Family history, Fifth digits bilaterally, Fifth finger, Fifth fingers, Generalized hypoplasia, Hypoplasia, Interpupillary distance, Iris, Iris anomalies, Iris frill, Middle phalanges, Middle phalanx, Ocular, Ocular anomalies, Ocular hypotelorism, Oculodentodigital dysplasia, Oral pathology, Pupillary, Pupillary margin, Pupillary membrane, Radiographic examination, Rieger syndrome, Second digit bilaterally, Second phalanx, Severe hypoplasia, Slight undertubulation, Syndactyly, Syndrome, Thin nose.
Teeft :
- Alveolar ridge, Anomaly, Bilaterally, Bone conduction, Canthal distance, Defective development, Digit, Enamel, Family history, Fifth digits bilaterally, Fifth finger, Fifth fingers, Generalized hypoplasia, Hypoplasia, Interpupillary distance, Iris, Iris anomalies, Iris frill, Middle phalanges, Middle phalanx, Ocular, Ocular anomalies, Ocular hypotelorism, Oculodentodigital dysplasia, Oral pathology, Pupillary, Pupillary margin, Pupillary membrane, Radiographic examination, Rieger syndrome, Second digit bilaterally, Second phalanx, Severe hypoplasia, Slight undertubulation, Syndactyly, Syndrome, Thin nose.

Abstract

A new syndrome, oculodentodigital dysplasia, is presented. Six case histories, 5 found in the literature and 1 of our own, have been analyzed and found to demonstrate similar changes. This new symptom complex is characterized by ocular anomalies which include hypotelorism, microphthalmia, and iridic changes; digital disfigurations including syndactyly and camptodactyly of the fourth and fifth fingers, and hypoplasia or aplasia of the middle phalanges and toes; and severe hypoplasia of the enamel of all the teeth. No chromosomal anomaly was demonstrable and no gentic pattern of transmission was apparent.

Url:

https://api.istex.fr/document/0DD7A16592DEABDCC5B1E49BDB16DB8B26E66F62/fulltext/pdf

DOI: 10.1016/S0022-3476(63)80304-2

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Le document en format XML

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<author><name sortKey="Gorlin, Robert J" sort="Gorlin, Robert J" uniqKey="Gorlin R" first="Robert J." last="Gorlin">Robert J. Gorlin</name>
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<author><name sortKey="Geme, Joseph W St" sort="Geme, Joseph W St" uniqKey="Geme J" first="Joseph W. St." last="Geme">Joseph W. St. Geme</name>
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<term>Anomaly</term>
<term>Bilaterally</term>
<term>Bone conduction</term>
<term>Canthal distance</term>
<term>Defective development</term>
<term>Digit</term>
<term>Enamel</term>
<term>Family history</term>
<term>Fifth digits bilaterally</term>
<term>Fifth finger</term>
<term>Fifth fingers</term>
<term>Generalized hypoplasia</term>
<term>Hypoplasia</term>
<term>Interpupillary distance</term>
<term>Iris</term>
<term>Iris anomalies</term>
<term>Iris frill</term>
<term>Middle phalanges</term>
<term>Middle phalanx</term>
<term>Ocular</term>
<term>Ocular anomalies</term>
<term>Ocular hypotelorism</term>
<term>Oculodentodigital dysplasia</term>
<term>Oral pathology</term>
<term>Pupillary</term>
<term>Pupillary margin</term>
<term>Pupillary membrane</term>
<term>Radiographic examination</term>
<term>Rieger syndrome</term>
<term>Second digit bilaterally</term>
<term>Second phalanx</term>
<term>Severe hypoplasia</term>
<term>Slight undertubulation</term>
<term>Syndactyly</term>
<term>Syndrome</term>
<term>Thin nose</term>
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<term>Bone conduction</term>
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<term>Defective development</term>
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<term>Enamel</term>
<term>Family history</term>
<term>Fifth digits bilaterally</term>
<term>Fifth finger</term>
<term>Fifth fingers</term>
<term>Generalized hypoplasia</term>
<term>Hypoplasia</term>
<term>Interpupillary distance</term>
<term>Iris</term>
<term>Iris anomalies</term>
<term>Iris frill</term>
<term>Middle phalanges</term>
<term>Middle phalanx</term>
<term>Ocular</term>
<term>Ocular anomalies</term>
<term>Ocular hypotelorism</term>
<term>Oculodentodigital dysplasia</term>
<term>Oral pathology</term>
<term>Pupillary</term>
<term>Pupillary margin</term>
<term>Pupillary membrane</term>
<term>Radiographic examination</term>
<term>Rieger syndrome</term>
<term>Second digit bilaterally</term>
<term>Second phalanx</term>
<term>Severe hypoplasia</term>
<term>Slight undertubulation</term>
<term>Syndactyly</term>
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<front><div type="abstract" xml:lang="en">A new syndrome, oculodentodigital dysplasia, is presented. Six case histories, 5 found in the literature and 1 of our own, have been analyzed and found to demonstrate similar changes. This new symptom complex is characterized by ocular anomalies which include hypotelorism, microphthalmia, and iridic changes; digital disfigurations including syndactyly and camptodactyly of the fourth and fifth fingers, and hypoplasia or aplasia of the middle phalanges and toes; and severe hypoplasia of the enamel of all the teeth. No chromosomal anomaly was demonstrable and no gentic pattern of transmission was apparent.</div>
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Oculodentodigital dysplasia

Oculodentodigital dysplasia

Source :

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Abstract

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