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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
- Abousamra O et al: Cervical spine deformities in children with rhizomelic chondrodysplasia punctata. J Pediatr Orthop. 39(9):e680-6, 2019
- 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
- Tardif ML et al: Mixed connective tissue disease in pregnancy: a case series and systematic literature review. Obstet Med. 12(1):31-7, 2019
- Alrukban H et al: Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review. Appl Clin Genet. 11:31-44, 2018
- 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
- Muratoğlu Şahin N et al: Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation. J Pediatr Endocrinol Metab. 30(8):889-92, 2017
- 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
- Bams-Mengerink AM et al: The neurology of rhizomelic chondrodysplasia punctata. Orphanet J Rare Dis. 8:174, 2013
- 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
- Waterham HR et al: Genetics and molecular basis of human peroxisome biogenesis disorders. Biochim Biophys Acta. 1822(9):1430-41, 2012
- Alessandri JL et al: Binder phenotype and brachytelephalangic chondrodysplasia punctata secondary to maternal vitamin K deficiency. Clin Dysmorphol. 19(2):85-7, 2010
- Boulet S et al: Brachytelephalangic chondrodysplasia punctata: prenatal diagnosis and postnatal outcome. Fetal Diagn Ther. 28(3):186-90, 2010
- Herman TE et al: Warfarin-induced brachytelephalangic chondrodysplasia punctata. J Perinatol. 30(6):437-8, 2010
- 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
- Schulz SW et al: Maternal mixed connective tissue disease and offspring with chondrodysplasia punctata. Semin Arthritis Rheum. 39(5):410-6, 2010
- Silverman E et al: Non-cardiac manifestations of neonatal lupus erythematosus. Scand J Immunol. 72(3):223-5, 2010
- Zwijnenburg PJ et al: Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings. Prenat Diagn. 30(2):162-4, 2010
- 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
- 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
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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
- Abousamra O et al: Cervical spine deformities in children with rhizomelic chondrodysplasia punctata. J Pediatr Orthop. 39(9):e680-6, 2019
- 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
- Tardif ML et al: Mixed connective tissue disease in pregnancy: a case series and systematic literature review. Obstet Med. 12(1):31-7, 2019
- Alrukban H et al: Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review. Appl Clin Genet. 11:31-44, 2018
- 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
- Muratoğlu Şahin N et al: Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation. J Pediatr Endocrinol Metab. 30(8):889-92, 2017
- 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
- Bams-Mengerink AM et al: The neurology of rhizomelic chondrodysplasia punctata. Orphanet J Rare Dis. 8:174, 2013
- 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
- Waterham HR et al: Genetics and molecular basis of human peroxisome biogenesis disorders. Biochim Biophys Acta. 1822(9):1430-41, 2012
- Alessandri JL et al: Binder phenotype and brachytelephalangic chondrodysplasia punctata secondary to maternal vitamin K deficiency. Clin Dysmorphol. 19(2):85-7, 2010
- Boulet S et al: Brachytelephalangic chondrodysplasia punctata: prenatal diagnosis and postnatal outcome. Fetal Diagn Ther. 28(3):186-90, 2010
- Herman TE et al: Warfarin-induced brachytelephalangic chondrodysplasia punctata. J Perinatol. 30(6):437-8, 2010
- 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
- Schulz SW et al: Maternal mixed connective tissue disease and offspring with chondrodysplasia punctata. Semin Arthritis Rheum. 39(5):410-6, 2010
- Silverman E et al: Non-cardiac manifestations of neonatal lupus erythematosus. Scand J Immunol. 72(3):223-5, 2010
- Zwijnenburg PJ et al: Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings. Prenat Diagn. 30(2):162-4, 2010
- 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
- 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
