Greenberg dysplasia (hydrops-ectopic calcification-moth-eaten skeletal dysplasia): prenatal ultrasound diagnosis and review of literature.

Abstract

A second pregnancy of young, nonconsanguineous parents of Macedonian ethnic origin was examined by ultrasound. Polyhydramnios and hydrops fetalis were found as well as severe short limb, short stature, and cystic hygroma of the neck. An artificial abortion was performed at the age of 23 weeks. The radiological features included moth-eaten severely shortened long bones and ectopic calcifications of long bones, vertebral column, ribs, pelvis, larynx, trachea. In addition, the fetus had large head with depressed nasal bridge, severe platyspondyly, and short barrel-shaped trunk. Light microscopy demonstrated lack of chondrocyte columns and disorganization of the cartilaginous architecture. This is the seventh reported case of this rare form of lethal skeletal dysplasia.

• Authors: Zoran Trajkovski, Miodrag Vrcakovski, Jordan Saveski, Zoran S Gucev
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 111 Issue 4 Pg. 415-9 (Sep 01 2002) ISSN: 0148-7299 [Print] United States
• PMID: 12210303 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2002 Wiley-Liss, Inc.

Chemical References

• Oxidoreductases
• Oxidoreductases Acting on CH-CH Group Donors
• 7-dehydrocholesterol reductase

Topics

• Abnormalities, Multiple (genetics, pathology)
• Abortion, Induced
• Adult
• Bone Diseases, Developmental (genetics, pathology)
• Calcinosis (genetics, pathology)
• Female
• Humans
• Hydrops Fetalis (genetics, pathology)
• Male
• Oxidoreductases (genetics)
• Oxidoreductases Acting on CH-CH Group Donors
• Polyhydramnios
• Pregnancy
• Ultrasonography, Prenatal