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Chondrodysplasia Punctata
Janice L. B. Byrne, MD
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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
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                          Related Differential Diagnoses
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                          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