Add to ORKGWe are reporting a 3-month-old male child who presented to us with growth failure, but detailed evaluation revealed clinicoradiological picture compatible with rhizomelic chondrodysplasia punctata; a rare autosomal recessive peroxisomal disorder
Background: Chondrodysplasia punctata (CDP) is a rare, heterogeneous congenital skeletal dysplasia, ...
A boy aged 21 months who was being investigated for developmental delay and failure to thrive was fo...
Abstract Background Rhizomelic chondrodysplasia punctata (RCDP) is a clinical entity resulting from ...
Rhizomelic chondrodysplasia punctate (RCDP) is a rare autosomal recessive peroxisomal disease. The m...
Copyright © 2014 Nalan Karabayır et al.This is an open access article distributed under theCreativeC...
BACKGROUND & OBJECTIVE: Chondrodysplasia punctata (CPD) describes a diverse group of bony dysplasias...
Rhizomelic chondrodysplasia punctata (RCDP) is a heterogenous group of disorders due to defects in g...
Background Rhizomelic chondrodysplasia punctata (RCDP) type 1 is among of the rare autosomal recessi...
OBJETIVO: descrever um caso de condrodisplasia puntiforme forma rizomélica e apresentar uma breve re...
Rhizomelic chondrodysplasia punctata type 1 is an inherited disease with extremely rare presentation...
We describe two brothers who presented at birth with bone growth abnormalities, followed by developm...
Key Clinical Message Rhizomelic chondrodysplasia punctata (RCDP) is a rare disorder (~1 in 100,000 l...
Chondrodysplasia calcificans punctata (CDP) is a rare congenital syndrome characterized by calcific ...
To describe the neurologic profiles of Rhizomelic chondrodysplasia punctata (RCDP); a peroxisomal di...
The authors present a case of a 2-month-old infant affected by the recessive form of chondrodysplasi...
Background: Chondrodysplasia punctata (CDP) is a rare, heterogeneous congenital skeletal dysplasia, ...
A boy aged 21 months who was being investigated for developmental delay and failure to thrive was fo...
Abstract Background Rhizomelic chondrodysplasia punctata (RCDP) is a clinical entity resulting from ...
Rhizomelic chondrodysplasia punctate (RCDP) is a rare autosomal recessive peroxisomal disease. The m...
Copyright © 2014 Nalan Karabayır et al.This is an open access article distributed under theCreativeC...
BACKGROUND & OBJECTIVE: Chondrodysplasia punctata (CPD) describes a diverse group of bony dysplasias...
Rhizomelic chondrodysplasia punctata (RCDP) is a heterogenous group of disorders due to defects in g...
Background Rhizomelic chondrodysplasia punctata (RCDP) type 1 is among of the rare autosomal recessi...
OBJETIVO: descrever um caso de condrodisplasia puntiforme forma rizomélica e apresentar uma breve re...
Rhizomelic chondrodysplasia punctata type 1 is an inherited disease with extremely rare presentation...
We describe two brothers who presented at birth with bone growth abnormalities, followed by developm...
Key Clinical Message Rhizomelic chondrodysplasia punctata (RCDP) is a rare disorder (~1 in 100,000 l...
Chondrodysplasia calcificans punctata (CDP) is a rare congenital syndrome characterized by calcific ...
To describe the neurologic profiles of Rhizomelic chondrodysplasia punctata (RCDP); a peroxisomal di...
The authors present a case of a 2-month-old infant affected by the recessive form of chondrodysplasi...
Background: Chondrodysplasia punctata (CDP) is a rare, heterogeneous congenital skeletal dysplasia, ...
A boy aged 21 months who was being investigated for developmental delay and failure to thrive was fo...
Abstract Background Rhizomelic chondrodysplasia punctata (RCDP) is a clinical entity resulting from ...