Prenatal diagnosis of autosomal recessive osteopetrosis: a case report

Malignant Infantile Osteopetrosis Masquerading as Isolated Fetal Femoral Fracture: First Indian Case Report and Review of Literature

“…7 Mistri et al diagnosed a heterozygous carrier state in the antenatal period due to a known homozygous nonsense mutation of TCIRG1 gene affected sibling. 8 In contrast, our case had neither a preceding index case nor a family history suggestive of skeletal dysplasias nor any reported ultrasound features of osteopetrosis (►Table 2). It also highlights the importance of genetic testing before labeling fetal femoral fractures as idiopathic.…”

“…7 Mistri et al diagnosed a heterozygous carrier state in the antenatal period due to a known homozygous nonsense mutation of TCIRG1 gene affected sibling. 8…”