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GAPO Syndrome: A Report of Two Siblings and a Review of Literature

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GAPO Syndrome: A Report of Two Siblings and a Review of Literature

Auteurs : Arti Nanda ; Wafa A. Al-Ateeqi ; Mona A. Al-Khawari ; Qasem A. Alsaleh ; Jeoram T. Anim [Koweït]

Source :

Pediatric Dermatology [ 0736-8046 ] ; 2010-03.

RBID : ISTEX:0E5187481369BB11830B64A00F6ECC9829293352

English descriptors

KwdEn :
- Acronym gapo, Additional patients, Alopecia, Amorphous material, Atrophy, Bers, Bilateral pallor, Candidate gene, Case report, Choroidal sclerosis, Consanguineous parents, Deeper dermis, Dermis, Early infancy, Electron microscopy, Empty sella, Gapo, Gapo syndrome, Genet, Growth retardation, Homogeneous material, Hyaline material, Magnetic resonance imaging, March april, Molecular defect, Molecular defects, Nasal retina, Ndings, Optic, Optic atrophy, Optic disc, Panoramic radiograph, Papillary, Papillary dermis, Pediatric dermatology, Present report, Primary teeth, Progressive loss, Prominent scalp veins, Pseudoanodontia, Reticular dermis, Several reports, Sibling, Skin biopsies, Skin biopsy, Sudden diminution, Syndrome, White matter.
Teeft :
- Acronym gapo, Additional patients, Alopecia, Amorphous material, Atrophy, Bers, Bilateral pallor, Candidate gene, Case report, Choroidal sclerosis, Consanguineous parents, Deeper dermis, Dermis, Early infancy, Electron microscopy, Empty sella, Gapo, Gapo syndrome, Genet, Growth retardation, Homogeneous material, Hyaline material, Magnetic resonance imaging, March april, Molecular defect, Molecular defects, Nasal retina, Ndings, Optic, Optic atrophy, Optic disc, Panoramic radiograph, Papillary, Papillary dermis, Pediatric dermatology, Present report, Primary teeth, Progressive loss, Prominent scalp veins, Pseudoanodontia, Reticular dermis, Several reports, Sibling, Skin biopsies, Skin biopsy, Sudden diminution, Syndrome, White matter.

Abstract

Abstract: Growth retardation, alopecia, pseudoanodontia, optic atrophy (GAPO) syndrome is a rare autosomal recessive disorder. The molecular nature of the disease is not fully understood and is considered to be one of the ectodermal dysplasia defects. In this report, we describe clinical, histologic, and ultrastructural features in two siblings born to consanguineous parents with a brief review of the literature.

Url:

https://api.istex.fr/document/0E5187481369BB11830B64A00F6ECC9829293352/fulltext/pdf

DOI: 10.1111/j.1525-1470.2010.01100.x

Affiliations:

Koweït

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

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to stream Istex, to step Curation: 000696
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to stream Main, to step Curation: 005274

Le document en format XML

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<term>Additional patients</term>
<term>Alopecia</term>
<term>Amorphous material</term>
<term>Atrophy</term>
<term>Bers</term>
<term>Bilateral pallor</term>
<term>Candidate gene</term>
<term>Case report</term>
<term>Choroidal sclerosis</term>
<term>Consanguineous parents</term>
<term>Deeper dermis</term>
<term>Dermis</term>
<term>Early infancy</term>
<term>Electron microscopy</term>
<term>Empty sella</term>
<term>Gapo</term>
<term>Gapo syndrome</term>
<term>Genet</term>
<term>Growth retardation</term>
<term>Homogeneous material</term>
<term>Hyaline material</term>
<term>Magnetic resonance imaging</term>
<term>March april</term>
<term>Molecular defect</term>
<term>Molecular defects</term>
<term>Nasal retina</term>
<term>Ndings</term>
<term>Optic</term>
<term>Optic atrophy</term>
<term>Optic disc</term>
<term>Panoramic radiograph</term>
<term>Papillary</term>
<term>Papillary dermis</term>
<term>Pediatric dermatology</term>
<term>Present report</term>
<term>Primary teeth</term>
<term>Progressive loss</term>
<term>Prominent scalp veins</term>
<term>Pseudoanodontia</term>
<term>Reticular dermis</term>
<term>Several reports</term>
<term>Sibling</term>
<term>Skin biopsies</term>
<term>Skin biopsy</term>
<term>Sudden diminution</term>
<term>Syndrome</term>
<term>White matter</term>
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<term>Alopecia</term>
<term>Amorphous material</term>
<term>Atrophy</term>
<term>Bers</term>
<term>Bilateral pallor</term>
<term>Candidate gene</term>
<term>Case report</term>
<term>Choroidal sclerosis</term>
<term>Consanguineous parents</term>
<term>Deeper dermis</term>
<term>Dermis</term>
<term>Early infancy</term>
<term>Electron microscopy</term>
<term>Empty sella</term>
<term>Gapo</term>
<term>Gapo syndrome</term>
<term>Genet</term>
<term>Growth retardation</term>
<term>Homogeneous material</term>
<term>Hyaline material</term>
<term>Magnetic resonance imaging</term>
<term>March april</term>
<term>Molecular defect</term>
<term>Molecular defects</term>
<term>Nasal retina</term>
<term>Ndings</term>
<term>Optic</term>
<term>Optic atrophy</term>
<term>Optic disc</term>
<term>Panoramic radiograph</term>
<term>Papillary</term>
<term>Papillary dermis</term>
<term>Pediatric dermatology</term>
<term>Present report</term>
<term>Primary teeth</term>
<term>Progressive loss</term>
<term>Prominent scalp veins</term>
<term>Pseudoanodontia</term>
<term>Reticular dermis</term>
<term>Several reports</term>
<term>Sibling</term>
<term>Skin biopsies</term>
<term>Skin biopsy</term>
<term>Sudden diminution</term>
<term>Syndrome</term>
<term>White matter</term>
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<front><div type="abstract">Abstract:  Growth retardation, alopecia, pseudoanodontia, optic atrophy (GAPO) syndrome is a rare autosomal recessive disorder. The molecular nature of the disease is not fully understood and is considered to be one of the ectodermal dysplasia defects. In this report, we describe clinical, histologic, and ultrastructural features in two siblings born to consanguineous parents with a brief review of the literature.</div>
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GAPO Syndrome: A Report of Two Siblings and a Review of Literature

GAPO Syndrome: A Report of Two Siblings and a Review of Literature

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