title: Prenatal diagnosis of hypophosphatasia congenita using ultrasonography.
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.
authors: Department of Radiology, Bangalore Medical College and Research Institute, Bangalore, India.
authors: Ashwitha
authors: 0000-0002-0351-4352
authors: A
authors: Guguloth
authors: Department of Radiolgy, Seth G S Medical College and KEM Hospital, Mumbai, India.
authors: Yashant
authors: 0000-0001-6994-8826
authors: Y
authors: Aswani
authors: Department of Radiolgy, Seth G S Medical College and KEM Hospital, Mumbai, India.
authors: Karan Manoj
authors: 0000-0001-9451-7577
authors: KM
authors: Anandpara
keywords: Exostoses; Hypophosphatasia; Ultrasonography, prenatal