Characteristic diagnostic clues of metatropic dysplasia: The lumbothoracic humpback with dumbbell appearance of the long bones

Characteristic diagnostic clues of metatropic dysplasia: The lumbothoracic humpback with dumbbell appearance of the long bones

Metatropic dysplasia (MD) is a rare skeletal dysplasia associated with heterozygous mutations in the TRPV4 gene. We describe a 28-month-old boy with knock-knees referred for metabolic investigation suspected of carrying vitamin D-resistant rickets. He has received regular vitamin D prophylaxis at th...

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Bibliographic Details
Main Authors: Gucev Z, Kalcev G, Laban N, Bozinovski Z, Popovski N, Saveski A, Daskalov B, Plaseska-Karanfilska D, Tasic V
Format: Article
Language:English
Published: Sciendo 2018-12-01
Series:Balkan Journal of Medical Genetics
Subjects:
a dumbbell appearance
kyphosis
metatropic dysplasia
trpv4 gene mutation
Online Access:https://doi.org/10.2478/bjmg-2018-0025

Internet

https://doi.org/10.2478/bjmg-2018-0025

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