Metaphyseal enchondrodysplasia with 2-hydroxy-glutaric aciduria: observation of a third case and further delineation

In the course of evaluating a 17 months old boy with waddling gait and swollen joints, we found generalized, severe ossification defects in the metaphyses of his long bones. The differential diagnosis included nutritional or genetic rickets, metaphyseal dysplasia, and enchondrodysplasia. Calcium, phosphate and alkaline phosphatase were normal, while targeted analysis of urinary organic acids repeatedly revealed excretion of 2-hydroxy-glutaric acid. Thus, this child appears to have unusual combination of findings described in just two patients so far, a girl and a boy, and called 'spondy-loenchondrodysplasia with D-2-hydroxy-glutaric aciduria'. These three cases are similar in terms of severe metaphyseal lesions, mild vertebral involvement, and presence of 2-hydroxy-glutaric acid in the urine. We consider this a radiographically and biochemically entity, for which we suggest the name of 'metaphyseal enchondrodysplasia with 2-hydroxy-glutaric aciduria'. (C) 2005 Lippincott Williams Wilkins.

Yazar Bayar, A
Acun, C
Dursun, A
Verhoeven, N
Bonafe, L
Keser, S
Superti-Furga, A
Yayın Türü Article
Tek Biçim Adres https://hdl.handle.net/20.500.12628/2933
Tek Biçim Adres 10.1097/00019605-200501000-00002
Konu Başlıkları spondyloenchondromatosis
skeletal dysplasia
metaphyseal enchondrodysplasia
2-hydroxy glutaric aciduria
Koleksiyonlar Araştırma Çıktıları | WoS | Scopus | TR-Dizin | PubMed | SOBİAD
PubMed İndeksli Yayınlar Koleksiyonu
WoS İndeksli Yayınlar Koleksiyonu
Dergi Adı CLINICAL DYSMORPHOLOGY
Dergi Cilt Bilgisi 14
Dergi Sayısı 1
Sayfalar 7 - 11
Yayın Yılı 2005
Eser Adı
[dc.title]
Metaphyseal enchondrodysplasia with 2-hydroxy-glutaric aciduria: observation of a third case and further delineation
Yazar
[dc.contributor.author]
Bayar, A
Yazar
[dc.contributor.author]
Acun, C
Yazar
[dc.contributor.author]
Dursun, A
Yazar
[dc.contributor.author]
Verhoeven, N
Yazar
[dc.contributor.author]
Bonafe, L
Yazar
[dc.contributor.author]
Keser, S
Yazar
[dc.contributor.author]
Superti-Furga, A
Yayın Yılı
[dc.date.issued]
2005
Yayıncı
[dc.publisher]
LIPPINCOTT WILLIAMS & WILKINS
Yayın Türü
[dc.type]
article
Özet
[dc.description.abstract]
In the course of evaluating a 17 months old boy with waddling gait and swollen joints, we found generalized, severe ossification defects in the metaphyses of his long bones. The differential diagnosis included nutritional or genetic rickets, metaphyseal dysplasia, and enchondrodysplasia. Calcium, phosphate and alkaline phosphatase were normal, while targeted analysis of urinary organic acids repeatedly revealed excretion of 2-hydroxy-glutaric acid. Thus, this child appears to have unusual combination of findings described in just two patients so far, a girl and a boy, and called 'spondy-loenchondrodysplasia with D-2-hydroxy-glutaric aciduria'. These three cases are similar in terms of severe metaphyseal lesions, mild vertebral involvement, and presence of 2-hydroxy-glutaric acid in the urine. We consider this a radiographically and biochemically entity, for which we suggest the name of 'metaphyseal enchondrodysplasia with 2-hydroxy-glutaric aciduria'. (C) 2005 Lippincott Williams Wilkins.
Açıklama
[dc.description]
WOS: 000227267100002
Açıklama
[dc.description]
PubMed: 15602086
Kayıt Giriş Tarihi
[dc.date.accessioned]
2019-12-23
Açık Erişim Tarihi
[dc.date.available]
2019-12-23
Yayın Dili
[dc.language.iso]
eng
Konu Başlıkları
[dc.subject]
spondyloenchondromatosis
Konu Başlıkları
[dc.subject]
skeletal dysplasia
Konu Başlıkları
[dc.subject]
metaphyseal enchondrodysplasia
Konu Başlıkları
[dc.subject]
2-hydroxy glutaric aciduria
Haklar
[dc.rights]
info:eu-repo/semantics/closedAccess
ISSN
[dc.identifier.issn]
0962-8827
İlk Sayfa Sayısı
[dc.identifier.startpage]
7
Son Sayfa Sayısı
[dc.identifier.endpage]
11
Dergi Adı
[dc.relation.journal]
CLINICAL DYSMORPHOLOGY
Dergi Sayısı
[dc.identifier.issue]
1
Dergi Cilt Bilgisi
[dc.identifier.volume]
14
Tek Biçim Adres
[dc.identifier.uri]
https://dx.doi.org/10.1097/00019605-200501000-00002
Tek Biçim Adres
[dc.identifier.uri]
https://hdl.handle.net/20.500.12628/2933
Görüntülenme Sayısı ( Şehir )
Görüntülenme Sayısı ( Ülke )
Görüntülenme Sayısı ( Zaman Dağılımı )
Görüntülenme
7
09.12.2022 tarihinden bu yana
İndirme
1
09.12.2022 tarihinden bu yana
Son Erişim Tarihi
08 Şubat 2024 05:35
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Tıklayınız
metaphyseal 2-hydroxy-glutaric enchondrodysplasia aciduria severe described called unusual D-2-hydroxy-glutaric spondy-loenchondrodysplasia combination patients findings entity Wilkins Williams Lippincott suggest biochemically similar radiographically consider presence involvement vertebral lesions repeatedly appears metaphyses defects ossification generalized joints diagnosis swollen
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