EdenteV2, Main, Exploration, bibRecord, 00A379

A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly

Identifieur interne : 00A379 ( Main/Exploration ); précédent : 00A378; suivant : 00A380

A 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.

RBID : ISTEX:1A8E6DA639D6BF36D4661DABDF3B4FB2FEEDE11B

English descriptors

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:

https://api.istex.fr/document/1A8E6DA639D6BF36D4661DABDF3B4FB2FEEDE11B/fulltext/pdf

DOI: 10.1111/j.1399-0004.1996.tb04315.x

Affiliations:

Belgique

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Le document en format XML

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<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>
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<term>Amelogenesis imperfecta</term>
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<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>
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<term>Vertebral bodies</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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A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly

A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly

Source :

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri