The authors present a case of a 2-month-old infant affected by the recessive form of chondrodysplasia punctata, a rare condition radiologically characterized by severe proximal shortening and anomalous ossifi-cation (epiphyseal stippling) of the limbs. Clinical and radiological findings as well as main differential diag-noses are emphasized on the basis of data originating from a brief literature review
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...
Rhizomelic means shortening of the bones closest to the body’s trunk. Chondrodysplasia refers to mal...
Background: Chondrodysplasia punctata (CDP) is a rare, heterogeneous congenital skeletal dysplasia, ...
This rare disease of cartilage in infants has been recorded under various names since it was first d...
Copyright © 2014 Nalan Karabayır et al.This is an open access article distributed under theCreativeC...
Clinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia pun...
Rhizomelic chondrodysplasia punctate (RCDP) is a rare autosomal recessive peroxisomal disease. The m...
BACKGROUND & OBJECTIVE: Chondrodysplasia punctata (CPD) describes a diverse group of bony dysplasias...
Hadeel Alrukban,1 David Chitayat1,2 1Department of Pediatrics, Division of Clinical and Metabolic Ge...
Brachytelephalangic chondrodysplasia punctata (CDPX1) is an X-linked recessive disorder caused by mu...
We are reporting a 3-month-old male child who presented to us with growth failure, but detailed eval...
The chondrodysplasia punctatas (CDP) are a group of genetic diseases presenting with the common hall...
International audienceWe report the prenatal management of a brachytelephalangic chondrodysplasia pu...
Chondrodysplasia punctata (CP) is a heterogeneous group of bone dysplasias that are characterized by...
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...
Rhizomelic means shortening of the bones closest to the body’s trunk. Chondrodysplasia refers to mal...
Background: Chondrodysplasia punctata (CDP) is a rare, heterogeneous congenital skeletal dysplasia, ...
This rare disease of cartilage in infants has been recorded under various names since it was first d...
Copyright © 2014 Nalan Karabayır et al.This is an open access article distributed under theCreativeC...
Clinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia pun...
Rhizomelic chondrodysplasia punctate (RCDP) is a rare autosomal recessive peroxisomal disease. The m...
BACKGROUND & OBJECTIVE: Chondrodysplasia punctata (CPD) describes a diverse group of bony dysplasias...
Hadeel Alrukban,1 David Chitayat1,2 1Department of Pediatrics, Division of Clinical and Metabolic Ge...
Brachytelephalangic chondrodysplasia punctata (CDPX1) is an X-linked recessive disorder caused by mu...
We are reporting a 3-month-old male child who presented to us with growth failure, but detailed eval...
The chondrodysplasia punctatas (CDP) are a group of genetic diseases presenting with the common hall...
International audienceWe report the prenatal management of a brachytelephalangic chondrodysplasia pu...
Chondrodysplasia punctata (CP) is a heterogeneous group of bone dysplasias that are characterized by...
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...
Rhizomelic means shortening of the bones closest to the body’s trunk. Chondrodysplasia refers to mal...