A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly
Identifieur interne : 000D10 ( Istex/Curation ); précédent : 000D09; suivant : 000D11A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly
Auteurs : Alain Verloes [Belgique] ; Paul Jamblin [Belgique] ; Lucien Koulischer [Belgique] ; Jean-Pierre Bourguignon [Belgique]Source :
- Clinical Genetics [ 0009-9163 ] ; 1996-01.
English descriptors
- KwdEn :
- Amelogenesis, Amelogenesis imperfecta, Amelogenesis irnperfecta, Anomaly, Brachyolmia, Broad femoral necks, Dysplasia, Femoral, Femoral necks, Frontal view, Generalized platyspondyly, Genet, Herniation, Hobaek, Hobaek type, Hypomaturation type, Hypoplastic, Imperfecta, Interpedicular distances, Intervertebral, Intervertebral spaces, Irnperfecta, Maroteaux type, Mild brachyolmia, Mild growth retardation, Pedicle, Platyspondyly, Posterior scalloping, Recessive, Recessive type, Several types, Shohat, Short pedicles, Skeletal dysplasia, Skeletal dysplasias, Toledo, Vertebral bodies, Vertebral plates.
- Teeft :
- Amelogenesis, Amelogenesis imperfecta, Amelogenesis irnperfecta, Anomaly, Brachyolmia, Broad femoral necks, Dysplasia, Femoral, Femoral necks, Frontal view, Generalized platyspondyly, Genet, Herniation, Hobaek, Hobaek type, Hypomaturation type, Hypoplastic, Imperfecta, Interpedicular distances, Intervertebral, Intervertebral spaces, Irnperfecta, Maroteaux type, Mild brachyolmia, Mild growth retardation, Pedicle, Platyspondyly, Posterior scalloping, Recessive, Recessive type, Several types, Shohat, Short pedicles, Skeletal dysplasia, Skeletal dysplasias, Toledo, Vertebral bodies, Vertebral plates.
Abstract
We report two patients, born of consanguineous parents, affected by a disorder resulting in mild growth retardation. Hallmarks are amelogenesis imperfecta (absence of the enamel cap) associated with brachyolmia‐like anomalies: platyspondyly with short pedicles, narrow intervertebral and interpedicular distances, rectangular‐shaped vertebrae with posterior scalloping and herniation of the nuclei, and broad femoral necks. Inheritance appears to be autosomal recessive.
Url:
DOI: 10.1111/j.1399-0004.1996.tb04315.x
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<series><title level="j" type="main">Clinical Genetics</title>
<title level="j" type="alt">CLINICAL GENETICS</title>
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<term>Amelogenesis imperfecta</term>
<term>Amelogenesis irnperfecta</term>
<term>Anomaly</term>
<term>Brachyolmia</term>
<term>Broad femoral necks</term>
<term>Dysplasia</term>
<term>Femoral</term>
<term>Femoral necks</term>
<term>Frontal view</term>
<term>Generalized platyspondyly</term>
<term>Genet</term>
<term>Herniation</term>
<term>Hobaek</term>
<term>Hobaek type</term>
<term>Hypomaturation type</term>
<term>Hypoplastic</term>
<term>Imperfecta</term>
<term>Interpedicular distances</term>
<term>Intervertebral</term>
<term>Intervertebral spaces</term>
<term>Irnperfecta</term>
<term>Maroteaux type</term>
<term>Mild brachyolmia</term>
<term>Mild growth retardation</term>
<term>Pedicle</term>
<term>Platyspondyly</term>
<term>Posterior scalloping</term>
<term>Recessive</term>
<term>Recessive type</term>
<term>Several types</term>
<term>Shohat</term>
<term>Short pedicles</term>
<term>Skeletal dysplasia</term>
<term>Skeletal dysplasias</term>
<term>Toledo</term>
<term>Vertebral bodies</term>
<term>Vertebral plates</term>
</keywords>
<keywords scheme="Teeft" xml:lang="en"><term>Amelogenesis</term>
<term>Amelogenesis imperfecta</term>
<term>Amelogenesis irnperfecta</term>
<term>Anomaly</term>
<term>Brachyolmia</term>
<term>Broad femoral necks</term>
<term>Dysplasia</term>
<term>Femoral</term>
<term>Femoral necks</term>
<term>Frontal view</term>
<term>Generalized platyspondyly</term>
<term>Genet</term>
<term>Herniation</term>
<term>Hobaek</term>
<term>Hobaek type</term>
<term>Hypomaturation type</term>
<term>Hypoplastic</term>
<term>Imperfecta</term>
<term>Interpedicular distances</term>
<term>Intervertebral</term>
<term>Intervertebral spaces</term>
<term>Irnperfecta</term>
<term>Maroteaux type</term>
<term>Mild brachyolmia</term>
<term>Mild growth retardation</term>
<term>Pedicle</term>
<term>Platyspondyly</term>
<term>Posterior scalloping</term>
<term>Recessive</term>
<term>Recessive type</term>
<term>Several types</term>
<term>Shohat</term>
<term>Short pedicles</term>
<term>Skeletal dysplasia</term>
<term>Skeletal dysplasias</term>
<term>Toledo</term>
<term>Vertebral bodies</term>
<term>Vertebral plates</term>
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<front><div type="abstract" xml:lang="en">We report two patients, born of consanguineous parents, affected by a disorder resulting in mild growth retardation. Hallmarks are amelogenesis imperfecta (absence of the enamel cap) associated with brachyolmia‐like anomalies: platyspondyly with short pedicles, narrow intervertebral and interpedicular distances, rectangular‐shaped vertebrae with posterior scalloping and herniation of the nuclei, and broad femoral necks. Inheritance appears to be autosomal recessive.</div>
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