Chondrodysplasia Punctata is a rare congenital disorder of bone in infant, which is characterized by radiographic manifestation of premature deposition of punctata calcific density in epiphyseal areas, preformed in cartilage. Chondrodysplasia Punctata includes two different disorders: a rhizomelic, potentially lethal variety and a nonrhizomelic variety (Conradi-Hunermann syndrome) which is more common and generally benign. These two conditions have different clinical, genetic, and radiographic characteristics. We experienced a case of rhizomelic Chondrodysplasia Punctata (RCDP) in a fetus of intrauterine pregnancy at 19 weeks who was terminated because of ultrasonographic demonstration of gross skeletal and midfacial anomaly. Thus, we report a case with brief review of the literature.
Cartilage ; Chondrodysplasia Punctata* ; Chondrodysplasia Punctata, Rhizomelic ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Fetus ; Humans ; Infant ; Pregnancy

Chondrodysplasia punctata is a rare congenital disorder of bone, occuring in infants, which is characterized by radiographic manifestation of premature deposition of punctate calcific densitiy in epiphyseal areas, preformed in cartilage. We experienced a case of rhizomelic type-chondrodysplsia punctata in a two day old female who showed short stature, symmetric shortening of proximal limbs, cataract, icthyositic skin lesion and characteristic coronal clefts in lumbar vertebral bodies on X-ray.
Cartilage ; Cataract ; Chondrodysplasia Punctata ; Chondrodysplasia Punctata, Rhizomelic* ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Extremities ; Female ; Humans ; Infant ; Skin

Chondrodysplasia punctata is a rare congenital disease. It is classified into four main types according to the clinical features and heredity: autosomal dominant (Conradi-Hunermann's) type, autosomal recessive (rhizomelic) type, X-linked dominant type and X-linked recessive type. Among the four, rhizomelic chondrodysplasia punctata (RCDP) is the most lethal form of the disease, and most patients die in the neonatal period. Diagnosis of the RCDP relies on its characteristic features and radiological finding. The characteristic features are craniofacial dysmorphism (flat face, flat nasal bridge, anteverted nostril, telecanthus), cataracts, rhizomelic limb shortening, ichthyosis, and mental retardation. Radiologic findings include rhizomelic symmetrical shortening of upper or lower extremity, coronal cleft of vertebral body, metaphysical spraying and stippled calcification. This case shows typical abnormality in the face and extremity and also radiologic abnormality, uniquely combined with unilateral choanal atresia.
Cataract ; Choanal Atresia* ; Chondrodysplasia Punctata* ; Chondrodysplasia Punctata, Rhizomelic ; Diagnosis ; Extremities ; Heredity ; Humans ; Ichthyosis ; Intellectual Disability ; Lower Extremity

Rhizomelic chondrodysplasia punctata(RCDP) is a rare autosomal recessive disorder clinically characterized by symmetrical shortening of the proximal limbs, contractures of joints, a typical dysmorphic face, cataracts, and itchyosis. Patients with RCDP can be subdivided into three subgroups based on biochemical analysis and complementation studies. RCDP type I results from mutations in the PEX7 gene encoding the peroxisomal targeting signal type II(PST2) receptors and presents with both a defect in plasmalogen biosynthesis and phytanic acid oxidation. RCDP type II is deficient in the activity of dihydroxyacetonephosphate acyltransferase(DHAP-AT). RCDP type III is deficient in alkyl-dihydroxyacetonephosphate synthase(alkyl-DHAP). We report a case of RCDP type I which was confirmed with biochemical study, fibroblast culture, and gene study.
Cataract ; Chondrodysplasia Punctata, Rhizomelic* ; Complement System Proteins ; Contracture ; Extremities ; Fibroblasts ; Humans ; Joints ; Phytanic Acid