First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous
CANT1
Desbuquois dysplasia
Genotype-phenotype correlation
Hyperphalangism
Prominent lesser trochanter
Journal
Molecular syndromology
ISSN: 1661-8769
Titre abrégé: Mol Syndromol
Pays: Switzerland
ID NLM: 101525192
Informations de publication
Date de publication:
Aug 2021
Aug 2021
Historique:
received:
09
03
2021
accepted:
17
04
2021
entrez:
4
10
2021
pubmed:
5
10
2021
medline:
5
10
2021
Statut:
ppublish
Résumé
Desbuquois dysplasia type 1 (DBQD1) is a very rare skeletal dysplasia characterized by growth retardation, short stature, distinct hand features, and a characteristic radiological monkey wrench appearance at the proximal femur. We report on 2unrelated Egyptian patients having the characteristic features of DBQD1 with different expressivity. Patient 1 presented at the age of 45 days with respiratory distress, short limbs, faltering growth, and distinctive facies while patient 2 presented at 5 years of age with short stature and hypospadias. The 2 patients shared radiological features suggestive of DBQD1. Whole-exome sequencing revealed a homozygous frameshift mutation in the
Identifiants
pubmed: 34602954
doi: 10.1159/000516607
pii: msy-0012-0279
pmc: PMC8436611
doi:
Types de publication
Journal Article
Langues
eng
Pagination
279-288Informations de copyright
Copyright © 2021 by S. Karger AG, Basel.
Déclaration de conflit d'intérêts
The authors have no conflicts of interest to declare.
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