Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype.

• Authors: A C Offiah, S Mansour, I Jeffrey, R Nash, N Whittock, R Pyper, S Bewley, P T Clayton, C M Hall
• Journal: Journal of medical genetics (J Med Genet) Vol. 40 Issue 12 Pg. e129 (Dec 2003) ISSN: 1468-6244 [Electronic] England
• PMID: 14684697 (Publication Type: Case Reports, Letter)

Chemical References

• Sterols
• Cholesterol

Topics

• Bone Diseases, Developmental (diagnosis, diagnostic imaging, pathology)
• Calcinosis (diagnosis, diagnostic imaging)
• Cholesterol (chemistry, metabolism)
• Chondrodysplasia Punctata (diagnosis, genetics, pathology)
• Diagnosis, Differential
• Female
• Fetal Diseases (diagnosis, genetics, pathology)
• Genetic Diseases, X-Linked (diagnosis, pathology)
• Humans
• Hydrops Fetalis (diagnosis, diagnostic imaging)
• Phenotype
• Pregnancy
• Radiography
• Sterols (analysis, metabolism)