Dysplasia Epiphysialis Punctata – Epiphyses, Stippled – Stippled Español: Condrodisplasia Punctata, – Condrodistrofia Calcificante Congénita – Displasia. MalaCards integrated aliases for Condrodisplasia Punctata Rizomélica: Name: Condrodisplasia Punctata Rizomélica. Classifications: MalaCards categories. Request PDF on ResearchGate | Condrodisplasia punctata de Conradi- Hünermann: implicaciones anestésicas | Chondrodysplasia punctata syndrome is a.

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Microphthalmia, microcornea and epicanthus have been reported. X-linked dominant chondrodysplasia punctata CDPX2 is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata CDPasymmetric shortening of the limbs, cataracts and short stature. RCDP1 is an autosomal recessive type.

Rhizomelic shortening of upper limbs, in addition to camptodactyly and rhizomelic shortening in a lower degree of lower limbs, contracture of limb joints figures 1hypotonia. An usual characteristic of therhizomelic CDP is the presence of coronal clefts in vertebralbodies. Summary and related texts. Preterm-born from consanguineous parents primiparous mother ,the patient has presented a series of clinical punctta radiologicalfindings suggesting a CDP diagnosis.

The treatment is basically symptomatic and depends on the severity condrodusplasia clinical manifestations.

Condrodisplasia punctata rizomélica: relato de caso e breve revisão da literatura

This study supports the diagnosis confirmed by biochemical studies and genetic counseling. A clinical case report and review of the literature.


In most cases it is lethal in males. InfancyNeonatal ICD Amongst the causes of epiphysealstippling, special importance is given to chondrodysplasiapunctata CDPa condition correlated with phenotypic variationsand determined by the type of genetic transmission. Condrodisplasia Punctata en un lactante. A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata.

Human Beings and animals protection: Based on the data presented by this study, we have inferredthe diagnosis as recessive CDP considering the exuberance of theclinical-radiological picture; however, we could not confirm thediagnosis by means of biochemical and genetic tests.

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InfancyNeonatal ICD The documents contained in this web site are presented for information purposes only. The authors state that they have followed the protocols condrodidplasia their Center and Local regulations on the publication of patient data.

Most individuals do not survive beyond their first decade of life. Different mutations of PEX7 gene have been described, with variations in phenotype.

A month-old male patient figure 1with no history or background of major diseases in his family or relatives. Physical, occupational and speech therapies may be necessary. Detailed information Article for general public Svenska Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Somatic mosaicism in the father or de novo mutations can explain the occurrence of offspring with CDPX2 when conxrodisplasia mutations are found in the mother.


Prenatal diagnosis is feasible when the causative mutation has already been identified in the family. These punctatecalcifications may result in delayed endochondral ossificationprocess, growth deficiency and deformity of the bonesinvolved 1.

PEX genes encode a series of proteins called peroxins, essential in the process of conndrodisplasia peroxisomes. Am J Med Genet ; J Pediatr Rio J.

Although the process of translocation of the different peroxisomal proteins is similar, there could be mistakes in the reception of these pathways, which leads to different disorders. The diagnosis is based on the clinical picture, also on laboratory tests given by biochemical tests such as determination of long fatty acids chains in plasma, plasmalogen levels, among punctat, and based on molecular diagnostic tests, if they are possible to perfom.

Patients usually present facies with micrognathia, malarhypoplasia, flattened nasal bridge and bulbous nose, withflattened face appearance.