Ultrasonography.  2016 Jan;35(1):83-86. 10.14366/usg.15008.

Prenatal diagnosis of hypophosphatasia congenita using ultrasonography

• Guguloth A
• Aswani Y
• Anandpara

• KMID: 2382023
• DOI: http://doi.org/10.14366/usg.15008

Abstract

Congenital hypophosphatasia is a rare fatal skeletal dysplasia. Antenatal determinants of Epub ahead of print 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.

Keyword

Hypophosphatasia; Exostoses; Ultrasonography, prenatal

MeSH Terms

Adult
Autopsy
Decision Making
Diagnosis
Diagnosis, Differential
Exostoses
Female
Fetus
Genetic Counseling
Humans
Hypophosphatasia*
Pregnancy
Pregnancy Trimester, Second
Prenatal Diagnosis*
Ultrasonography*
Ultrasonography, Prenatal