ABSTRACT
Three new points of view were reported in this study:1.Found out the distribution of KaschinBeck disease (KBD) in Tibet,the complexity of bone disease composition,and the types of osteopathy coexisted which need to be identified;2.The clinical symptoms of KBD in Tibet were significantly different from those in other areas of our country;3.The new clinical subtypes of KBD were found in Tibet,which had humeral shortness and short stature,but with normal hands and feet.This discovery made us understand KBD more profoundly and comprehensively,and promoted the research and prevention work of KBD.
ABSTRACT
A male neonate was born with rhizomelic shortening of limbs. Skeletal radiograph showed punctate calcification of epiphysis of humerus, femur, and tibia. The diagnosis and a brief review of literature pertaining to the condition with emphasis on antenatal diagnosis and counseling are being reported.
ABSTRACT
La condrodisplasia rizomélica punctata es una enfermedad peroxisomal que se transmite de manera autosómica recesiva, donde se ve afectada la actividad bioquímica de este organillo por defectos en la síntesis y actividad de enzimas que participan en una gran variedad de vías metabólicas, éstas incluyen; La beta oxidación ácidos grasos, síntesis de ácidos biliares y los compuestos isoprenoides. Describimos las manifestaciones clínicas, estudios complementarios y la evolución de dos hermanos atendidos, los cuales presentaban antecedentes y hallazgos en común con este infrecuente padecimiento. De los dos casos, uno fue del sexo femenino y el otro del sexo masculino, el primero falleció por falla respiratoria y el segundo se le realizan los estudios complementarios para el diagnóstico. Desde el punto de vista genético hay consanguinidad del cuarto grado en esta descendencia ya que la pareja son primos y esto aumenta el riesgo de que aparezcan enfermedades hereditarias del tipo autosómico recesivo.
The rhizomelic chondrodysplasia punctata is a peroxisomal disease that is transmitted in an autosomal recessive, where it affected the biochemical activity of this organelle by defects in the synthesis and activity of enzymes involved in a variety of metabolic pathways including the beta oxidation of some fatty acids, bile acid synthesis and isoprenoid compounds. This article describes the clinical manifestations, complementary studies and evolution of 2 brothers served in the Hospital José Domingo de Obaldía in 2009, which had a history and findings in common with this rare condition. Of the 2 cases, one was female and one male, the first died of a respiratory problem and the second study was performed to verify the diagnosis. From the genetic point of view there is a 4th degree consanguinity in the offspring as the pair are cousins and this increases the risk of emerging diseases of autosomal recessive hereditary.
ABSTRACT
Chondrodysplasia punctata is a group of heterogeneous bone dysplasia characterized by punctate calcifications of the cartilage, frequently associated with a shortening of the limbs, cataracts, icthyosis and alopecia, alterations of the nervous system, and mental and growth deficiencies. Our case presented findings of the rhizomelic chodrodysplasia punctata : a characteristic face, a sucking difficulty and a short neck. Skeletal radiographies showed punctate calcification and stippling on femurs, lumbar vertebral bodies and vertebral coronal cleft. According to his family history, his brother, who had the same characteristic face and punctate calcification at the neonatal period, died at the age of six months due to respiratory failure. The rhizomelic form of chondrodysplasia puntata is rare, the prognosis is bad and death usually occurs within the first year of age. We report a case of rhizomelic chondrodysplasia punctata occurring in siblings diagnosed by clinical and radiological criteria.
Subject(s)
Infant, Newborn , HumansABSTRACT
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.
Subject(s)
Humans , Cataract , Chondrodysplasia Punctata, Rhizomelic , Complement System Proteins , Contracture , Extremities , Fibroblasts , Joints , Phytanic AcidABSTRACT
Chondrodysplasia punctata is a rare congenital syndrome caused by a peroxisomal dysfunction. Chondrodysplasia punctata is classified into four main types-Coradi-Hunermann's type, rhizomelic type, X-linked dominant form and X-linked recessive form. A male patient with this condition was born at 39 weeks gestation, the pregnancy being complicated by polyhydroamnios, breech presentation, and anomalies of congenital limbs. At delivery, there was no activity and no initial crying. Physical examination revealed a flat nose, a short neck, scaled ichthyolytic skin, and bilaterally symmetrical shortening of the upper and lower extremities. Choromosomal analysis revealed a 46, XY karyotype. Radiologic examination disclosed stippling of the cartilage on the epiphyseal regions of the long bones, paravertebral regions, carpal bones and tarsal bones. In additions, a chest x-ray showed right pneumothorax. Chest and endotracheal tubes were inserted. However, the patient died due to respiratory failure at 19 days of life. We report a case of rhizomelic type of chondrodysplasia punctata assocoated with pneumothorax with a brief review of the related literatures.