Journal article
Prenatal diagnosis of hypophosphatasia congenita using ultrasonography
Ultrasonography (Seoul, Korea), Vol.35(1), pp.83-86
01/2016
DOI: 10.14366/usg.15008
PMCID: PMC4701366
PMID: 25971898
Abstract
Congenital hypophosphatasia is a rare fatal skeletal dysplasia. Antenatal determinants of lethality include small thoracic circumference with pulmonary hypoplasia and severe micromelia. These features were present in the fetus of a 25-year-old female who came for an anomaly scan in her second trimester of pregnancy. Additional findings of generalized demineralization and osteochondral spurs led to the diagnosis of hypophosphatasia congenita. The pregnancy was terminated, and the findings were confirmed on autopsy. Common differential diagnoses with clues to diagnose the above mentioned condition have been discussed here. Early and accurate detection of this medical condition is important as no treatment has been established for this condition. Therefore, antenatal ultrasonography helps in diagnosing and decision making with respect to the current pregnancy and lays the foundation for the genetic counseling of the couple.
Details
- Title: Subtitle
- Prenatal diagnosis of hypophosphatasia congenita using ultrasonography
- Creators
- Ashwitha Guguloth - Bangalore Medical College and Research InstituteYashant Aswani - Department of Radiolgy, Seth G S Medical College and KEM Hospital, Mumbai, India.Karan Manoj Anandpara - Department of Radiolgy, Seth G S Medical College and KEM Hospital, Mumbai, India.
- Resource Type
- Journal article
- Publication Details
- Ultrasonography (Seoul, Korea), Vol.35(1), pp.83-86
- DOI
- 10.14366/usg.15008
- PMID
- 25971898
- PMCID
- PMC4701366
- NLM abbreviation
- Ultrasonography
- ISSN
- 2288-5919
- eISSN
- 2288-5943
- Language
- English
- Date published
- 01/2016
- Academic Unit
- Radiology
- Record Identifier
- 9984318820502771
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