A Report of a Rare Case of Achondrogenesis Syndrom Type II

Document Type : Case report

Authors

1 Assistant Professor of Neoatalogy, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran

2 Professor of Neoatalogy, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran

Abstract

Introduction: Achondrogesis is a rare severs skeletal displasia. Clinical findings include large head, small narrow thorax, extreme limb shortening, variable degree of hydrops fetalis. Most babies die in uterus.
Case Report: In this article a rare case of this disease (type II) with all of clinical findings, and characteristics radiological features (short limb, large head, skeletal deformity, absence of ossification center of vertebra, pubis and sacrum is reponted.
Conclusion: Antenatal diagnosis (villocentesis in the first trimesters and then experienced sonographer) and at birth clinical examination, radiographs, and autopsy are mandatory for making a specific diagnosis.

Keywords

References

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