link
Bookmarks
Obstetrics
Diagnosis
Musculoskeletal
Dysplasias
Chondrodysplasia Punctata
Chondrodysplasia Punctata
Janice L. B. Byrne, MD
To access 4,300 diagnoses written by the world's leading experts in radiology, please log in or subscribe.Subscribe
0
0
0
0

KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Diagnostic Checklist

          TERMINOLOGY

          • Synonyms

            • Autosomal recessive chondrodysplasia punctata
            • X-linked chondrodysplasia punctata

          • Definitions

            • Etiologic & genetically heterogeneous group of osteochondrodystrophies associated with punctate calcifications (stippled epiphyses) of long bones & spine & severe nasal hypoplasia
            • Associated with single-gene disorders, maternal conditions, metabolic abnormalities, chromosome abnormalities, & teratogen exposures

          IMAGING

          • Ultrasonographic Findings

            • Radiographic Findings

              • Imaging Recommendations

                DIFFERENTIAL DIAGNOSIS

                  CLINICAL ISSUES

                  • Presentation

                    • Natural History & Prognosis

                      • Treatment

                        DIAGNOSTIC CHECKLIST

                        • Image Interpretation Pearls

                          Selected References

                          1. Abousamra O et al: Cervical spine deformities in children with rhizomelic chondrodysplasia punctata. J Pediatr Orthop. 39(9):e680-6, 2019
                          2. He G et al: Prenatal findings in a fetus with X-linked recessive type of chondrodysplasia punctata (CDPX1): a case report with novel mutation. BMC Pediatr. 19(1):250, 2019
                          3. Tardif ML et al: Mixed connective tissue disease in pregnancy: a case series and systematic literature review. Obstet Med. 12(1):31-7, 2019
                          4. Alrukban H et al: Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review. Appl Clin Genet. 11:31-44, 2018
                          5. Blask AR et al: Severe nasomaxillary hypoplasia (Binder phenotype) on prenatal US/MRI: an important marker for the prenatal diagnosis of chondrodysplasia punctata. Pediatr Radiol. 48(7):979-91, 2018
                          6. Muratoğlu Şahin N et al: Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation. J Pediatr Endocrinol Metab. 30(8):889-92, 2017
                          7. Cañueto J et al: The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-Hünermann-Happle syndrome. Biochim Biophys Acta. 1841(3):336-44, 2014
                          8. Bams-Mengerink AM et al: The neurology of rhizomelic chondrodysplasia punctata. Orphanet J Rare Dis. 8:174, 2013
                          9. Cañueto J et al: Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature. Br J Dermatol. 166(4):830-8, 2012
                          10. Waterham HR et al: Genetics and molecular basis of human peroxisome biogenesis disorders. Biochim Biophys Acta. 1822(9):1430-41, 2012
                          11. Alessandri JL et al: Binder phenotype and brachytelephalangic chondrodysplasia punctata secondary to maternal vitamin K deficiency. Clin Dysmorphol. 19(2):85-7, 2010
                          12. Boulet S et al: Brachytelephalangic chondrodysplasia punctata: prenatal diagnosis and postnatal outcome. Fetal Diagn Ther. 28(3):186-90, 2010
                          13. Herman TE et al: Warfarin-induced brachytelephalangic chondrodysplasia punctata. J Perinatol. 30(6):437-8, 2010
                          14. Nimmo G et al: Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1. Am J Med Genet A. 152A(7):1812-7, 2010
                          15. Schulz SW et al: Maternal mixed connective tissue disease and offspring with chondrodysplasia punctata. Semin Arthritis Rheum. 39(5):410-6, 2010
                          16. Silverman E et al: Non-cardiac manifestations of neonatal lupus erythematosus. Scand J Immunol. 72(3):223-5, 2010
                          17. Zwijnenburg PJ et al: Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings. Prenat Diagn. 30(2):162-4, 2010
                          18. Levaillant JM et al: Binder phenotype: clinical and etiological heterogeneity of the so-called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literature. Prenat Diagn. 29(2):140-50, 2009
                          19. Chitayat D et al: Chondrodysplasia punctata associated with maternal autoimmune diseases: expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases. Am J Med Genet A. 146A(23):3038-53, 2008
                          Related Anatomy
                          Loading...
                          Related Differential Diagnoses
                          Loading...
                          References
                          Tables

                          Tables

                          KEY FACTS

                          • Terminology

                            • Imaging

                              • Top Differential Diagnoses

                                • Diagnostic Checklist

                                  TERMINOLOGY

                                  • Synonyms

                                    • Autosomal recessive chondrodysplasia punctata
                                    • X-linked chondrodysplasia punctata

                                  • Definitions

                                    • Etiologic & genetically heterogeneous group of osteochondrodystrophies associated with punctate calcifications (stippled epiphyses) of long bones & spine & severe nasal hypoplasia
                                    • Associated with single-gene disorders, maternal conditions, metabolic abnormalities, chromosome abnormalities, & teratogen exposures

                                  IMAGING

                                  • Ultrasonographic Findings

                                    • Radiographic Findings

                                      • Imaging Recommendations

                                        DIFFERENTIAL DIAGNOSIS

                                          CLINICAL ISSUES

                                          • Presentation

                                            • Natural History & Prognosis

                                              • Treatment

                                                DIAGNOSTIC CHECKLIST

                                                • Image Interpretation Pearls

                                                  Selected References

                                                  1. Abousamra O et al: Cervical spine deformities in children with rhizomelic chondrodysplasia punctata. J Pediatr Orthop. 39(9):e680-6, 2019
                                                  2. He G et al: Prenatal findings in a fetus with X-linked recessive type of chondrodysplasia punctata (CDPX1): a case report with novel mutation. BMC Pediatr. 19(1):250, 2019
                                                  3. Tardif ML et al: Mixed connective tissue disease in pregnancy: a case series and systematic literature review. Obstet Med. 12(1):31-7, 2019
                                                  4. Alrukban H et al: Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review. Appl Clin Genet. 11:31-44, 2018
                                                  5. Blask AR et al: Severe nasomaxillary hypoplasia (Binder phenotype) on prenatal US/MRI: an important marker for the prenatal diagnosis of chondrodysplasia punctata. Pediatr Radiol. 48(7):979-91, 2018
                                                  6. Muratoğlu Şahin N et al: Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation. J Pediatr Endocrinol Metab. 30(8):889-92, 2017
                                                  7. Cañueto J et al: The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-Hünermann-Happle syndrome. Biochim Biophys Acta. 1841(3):336-44, 2014
                                                  8. Bams-Mengerink AM et al: The neurology of rhizomelic chondrodysplasia punctata. Orphanet J Rare Dis. 8:174, 2013
                                                  9. Cañueto J et al: Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature. Br J Dermatol. 166(4):830-8, 2012
                                                  10. Waterham HR et al: Genetics and molecular basis of human peroxisome biogenesis disorders. Biochim Biophys Acta. 1822(9):1430-41, 2012
                                                  11. Alessandri JL et al: Binder phenotype and brachytelephalangic chondrodysplasia punctata secondary to maternal vitamin K deficiency. Clin Dysmorphol. 19(2):85-7, 2010
                                                  12. Boulet S et al: Brachytelephalangic chondrodysplasia punctata: prenatal diagnosis and postnatal outcome. Fetal Diagn Ther. 28(3):186-90, 2010
                                                  13. Herman TE et al: Warfarin-induced brachytelephalangic chondrodysplasia punctata. J Perinatol. 30(6):437-8, 2010
                                                  14. Nimmo G et al: Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1. Am J Med Genet A. 152A(7):1812-7, 2010
                                                  15. Schulz SW et al: Maternal mixed connective tissue disease and offspring with chondrodysplasia punctata. Semin Arthritis Rheum. 39(5):410-6, 2010
                                                  16. Silverman E et al: Non-cardiac manifestations of neonatal lupus erythematosus. Scand J Immunol. 72(3):223-5, 2010
                                                  17. Zwijnenburg PJ et al: Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings. Prenat Diagn. 30(2):162-4, 2010
                                                  18. Levaillant JM et al: Binder phenotype: clinical and etiological heterogeneity of the so-called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literature. Prenat Diagn. 29(2):140-50, 2009
                                                  19. Chitayat D et al: Chondrodysplasia punctata associated with maternal autoimmune diseases: expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases. Am J Med Genet A. 146A(23):3038-53, 2008