Table 6.

Genes of Interest in the Differential Diagnosis of COL1A1/2 Osteogenesis Imperfecta – In Utero Assessment

GeneDifferential
Diagnosis
Disorder 1		MOIPrenatal Ultrasound & Radiographic Findings in Differential Diagnosis Disorder
Overlapping w/COL1A1/2-OINot observed in COL1A1/2-OI
ALPL Perinatal hypophosphatasia ARBlue sclerae; abnormal teeth; fracturesRickets; GI: poor feeding, emesis; craniosynostosis; vertebral clefts; low alkaline phosphatase; high calcium in serum & urine; bone spurs
FGFR3 Thanatophoric dysplasia ADIn severe OI: fetal hydrops & respiratory distressSevere micromelia; cloverleaf skull; small iliac bones, narrow sacroiliac notch
SLC26A2 Achondrogenesis type 1B ARThin short ribs in severe OIAbsent mineralization; severe micromelia
SOX9 Campomelic dysplasia ADRespiratory distress in severe OI; short limbs & small chestCurved femurs w/skin dimpling; absent/hypoplastic scapula; macrocephaly; large anterior fontanelle; male sex reversal (46XY, female); undermineralized thoracic vertebral pedicles; congenital heart defect

From: COL1A1/2 Osteogenesis Imperfecta

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