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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
- Fallatah W et al: Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata. J Inherit Metab Dis. 44(4):1021-38, 2021
- Lefebvre M et al: Severe X-linked chondrodysplasia punctata in 9 new female fetuses. Prenat Diagn. 35(7):675-84, 2015
- 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
- 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
- Goussard P et al: Calcification and airway stenosis in a child with chondrodysplasia calcificans punctata. BMJ Case Rep. 2014, 2014
- Hou JW: Conradi-Hünermann-Happle syndrome with cervical stenosis. Pediatr Neurol. 49(6):513-4, 2013
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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
- Fallatah W et al: Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata. J Inherit Metab Dis. 44(4):1021-38, 2021
- Lefebvre M et al: Severe X-linked chondrodysplasia punctata in 9 new female fetuses. Prenat Diagn. 35(7):675-84, 2015
- 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
- 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
- Goussard P et al: Calcification and airway stenosis in a child with chondrodysplasia calcificans punctata. BMJ Case Rep. 2014, 2014
- Hou JW: Conradi-Hünermann-Happle syndrome with cervical stenosis. Pediatr Neurol. 49(6):513-4, 2013
