Rhizomelic chondrodysplasia punctata type 1 is an inherited disease with extremely rare presentation. It affects 1 in 100,000 individuals [2]. Rhizomelic chondrodysplasia punctata is associated with significantly delayed development and severe mental retardation. Most children with this condition do not achieve developmental milestones and has growth retardation. RCDP is an autosomal-recessive disease caused by mutations in the PEX7 gene. In this article I presented a a rare case of patient with Rhizomelic chondrodysplasia punctata type 1 admitted with pneumonia then he has been infected by nosocomal infection with corona virus and RSV that necessitate shifting him to PICU. At the end due to the severity of respiratory problems of individua...
To describe the neurologic profiles of Rhizomelic chondrodysplasia punctata (RCDP); a peroxisomal di...
Chondrodysplasia calcificans punctata (CDP) is a rare congenital syndrome characterized by calcific ...
Abstract Background Rhizomelic chondrodysplasia punctata (RCDP) is a clinical entity resulting from ...
Copyright © 2014 Nalan Karabayır et al.This is an open access article distributed under theCreativeC...
Background Rhizomelic chondrodysplasia punctata (RCDP) type 1 is among of the rare autosomal recessi...
BACKGROUND & OBJECTIVE: Chondrodysplasia punctata (CPD) describes a diverse group of bony dysplasias...
Key Clinical Message Rhizomelic chondrodysplasia punctata (RCDP) is a rare disorder (~1 in 100,000 l...
Rhizomelic chondrodysplasia punctate (RCDP) is a rare autosomal recessive peroxisomal disease. The m...
We describe two brothers who presented at birth with bone growth abnormalities, followed by developm...
Rhizomelic chondrodysplasia punctata (RCDP) is a heterogenous group of disorders due to defects in g...
Abstract Background Rhizomelic chondrodysplasia punctata (RCDP) is an inherited ultra-rare disease w...
OBJETIVO: descrever um caso de condrodisplasia puntiforme forma rizomélica e apresentar uma breve re...
We are reporting a 3-month-old male child who presented to us with growth failure, but detailed eval...
X-linked chondrodysplasia punctata 1 (CDPX1), a congenital disorder of bone and cartilage developmen...
Chondrodysplasia punctata (CDP) is associated with a variety of genetic and nongenetic conditions. W...
To describe the neurologic profiles of Rhizomelic chondrodysplasia punctata (RCDP); a peroxisomal di...
Chondrodysplasia calcificans punctata (CDP) is a rare congenital syndrome characterized by calcific ...
Abstract Background Rhizomelic chondrodysplasia punctata (RCDP) is a clinical entity resulting from ...
Copyright © 2014 Nalan Karabayır et al.This is an open access article distributed under theCreativeC...
Background Rhizomelic chondrodysplasia punctata (RCDP) type 1 is among of the rare autosomal recessi...
BACKGROUND & OBJECTIVE: Chondrodysplasia punctata (CPD) describes a diverse group of bony dysplasias...
Key Clinical Message Rhizomelic chondrodysplasia punctata (RCDP) is a rare disorder (~1 in 100,000 l...
Rhizomelic chondrodysplasia punctate (RCDP) is a rare autosomal recessive peroxisomal disease. The m...
We describe two brothers who presented at birth with bone growth abnormalities, followed by developm...
Rhizomelic chondrodysplasia punctata (RCDP) is a heterogenous group of disorders due to defects in g...
Abstract Background Rhizomelic chondrodysplasia punctata (RCDP) is an inherited ultra-rare disease w...
OBJETIVO: descrever um caso de condrodisplasia puntiforme forma rizomélica e apresentar uma breve re...
We are reporting a 3-month-old male child who presented to us with growth failure, but detailed eval...
X-linked chondrodysplasia punctata 1 (CDPX1), a congenital disorder of bone and cartilage developmen...
Chondrodysplasia punctata (CDP) is associated with a variety of genetic and nongenetic conditions. W...
To describe the neurologic profiles of Rhizomelic chondrodysplasia punctata (RCDP); a peroxisomal di...
Chondrodysplasia calcificans punctata (CDP) is a rare congenital syndrome characterized by calcific ...
Abstract Background Rhizomelic chondrodysplasia punctata (RCDP) is a clinical entity resulting from ...