Antenatal Single Bone Hypoplasia
Ashish Jain, Meenu Grewal
Abstract
Single bone hypoplasia is a rare condition. Bone hypoplasia can occur as isolated limb deficiencies or multiple limb reduction defects and may involve anomalies of the internal organs. It can manifest into a cosmetic defect or a lethal anomaly. In isolated cases, etiologies include amniotic band syndrome, exposure to a teratogen, or a vascular accident. The majority of the anomalies associated with hypoplasia are sporadic, and the risk of recurrence is unknown or negligible. Deficiencies related to hypoplasia are present from the seventh week of gestation. Three of 4 isolated defects remain undiagnosed by antenatal ultrasonography (USG). However, when detected antenatally, detailed anomaly and cardiac scans are mandatory, and karyotyping should be offered when other anomalies are detected by the USG. Management involves restoration of the limb function and appearance. The treatment depends on the age, extent of the defect, and child and parental preference. Timely intervention and multidisciplinary care are essential for the management of the condition after birth.
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