link
Bookmarks
Chondrodysplasia Punctata
Nancy A. Chauvin, MD; Cheryl A. Petersilge, MD, MBA
To access 4,300 diagnoses written by the world's leading experts in radiology.Try it free - 15 days
0
2
24
1

KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Synonyms

              • Chondrodystrophia calcificans congenita
              • Congenital stippled epiphyses
              • Conradi-Hünermann disease
              • Dysplasia epiphysealis punctata
            • Definitions

              • Group of bone dysplasias with congenital cartilage ossification but different genetic patterns

            IMAGING

            • Radiographic Findings

              DIFFERENTIAL DIAGNOSIS

                PATHOLOGY

                • General Features

                  CLINICAL ISSUES

                  • Presentation

                    • Demographics

                      • Natural History & Prognosis

                        Selected References

                        1. Fallatah W et al: Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata. J Inherit Metab Dis. 44(4):1021-38, 2021
                        2. Lefebvre M et al: Severe X-linked chondrodysplasia punctata in 9 new female fetuses. Prenat Diagn. 35(7):675-84, 2015
                        3. Shukla A et al: Chondrodysplasia punctata tibia metacarpal type: report of a 1.5 year old child with severe short stature and extensive calcific stippling. Clin Dysmorphol. 24(3):118-21, 2015
                        4. Çim A et al: Rhizomelic chondrodysplasia punctata type 1 caused by a novel mutation in the PEX7 gene. J Clin Res Pediatr Endocrinol. 7(1):69-72, 2015
                        5. Goussard P et al: Calcification and airway stenosis in a child with chondrodysplasia calcificans punctata. BMJ Case Rep. 2014, 2014
                        6. Hou JW: Conradi-Hünermann-Happle syndrome with cervical stenosis. Pediatr Neurol. 49(6):513-4, 2013
                        Related Anatomy
                        Loading...
                        Related Differential Diagnoses
                        Loading...
                        References
                        Tables

                        Tables

                        KEY FACTS

                        • Terminology

                          • Imaging

                            • Top Differential Diagnoses

                              • Pathology

                                • Clinical Issues

                                  TERMINOLOGY

                                  • Synonyms

                                    • Chondrodystrophia calcificans congenita
                                    • Congenital stippled epiphyses
                                    • Conradi-Hünermann disease
                                    • Dysplasia epiphysealis punctata
                                  • Definitions

                                    • Group of bone dysplasias with congenital cartilage ossification but different genetic patterns

                                  IMAGING

                                  • Radiographic Findings

                                    DIFFERENTIAL DIAGNOSIS

                                      PATHOLOGY

                                      • General Features

                                        CLINICAL ISSUES

                                        • Presentation

                                          • Demographics

                                            • Natural History & Prognosis

                                              Selected References

                                              1. Fallatah W et al: Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata. J Inherit Metab Dis. 44(4):1021-38, 2021
                                              2. Lefebvre M et al: Severe X-linked chondrodysplasia punctata in 9 new female fetuses. Prenat Diagn. 35(7):675-84, 2015
                                              3. Shukla A et al: Chondrodysplasia punctata tibia metacarpal type: report of a 1.5 year old child with severe short stature and extensive calcific stippling. Clin Dysmorphol. 24(3):118-21, 2015
                                              4. Çim A et al: Rhizomelic chondrodysplasia punctata type 1 caused by a novel mutation in the PEX7 gene. J Clin Res Pediatr Endocrinol. 7(1):69-72, 2015
                                              5. Goussard P et al: Calcification and airway stenosis in a child with chondrodysplasia calcificans punctata. BMJ Case Rep. 2014, 2014
                                              6. Hou JW: Conradi-Hünermann-Happle syndrome with cervical stenosis. Pediatr Neurol. 49(6):513-4, 2013