Table 1 Comparison of prenatal cases of CDPX1with a molecular diagnosis
Case No. | Source | Maternal age (years) | Gestation weeks at diagnosis | Fetal sex | Prenatal ultrasound (MRI/CT) findings | Postnatal findings and outcome | Pathogenic variant |
|---|---|---|---|---|---|---|---|
1 | This study | 30s | 24 | M | A flattened nose and an increased nasofrontal angle (145°) with spine abnormalities | A severe nasal hypoplasia, stippled epiphyses of the vertebrae in all spine regions, termination of pregnancy at 30 weeks of gestation. | c.1108del p.(Trp370Glyfs*35) |
2 | Bosco et al., 2024 [12] | 32 | 29 | M | Appropriate for gestational age, a mild polyhydramnios, a reduced nasofrontal angel and prominent lips | A webbed neck, flat nasal bridge, mild hypertelorism, low set ears, respiratory distress; punctate calcifications in the trachea, larynx, proximal humerus, and glenoid fossa bilaterally, stippling in the hips, ankles, and lateral masses of some cervical and lumbar vertebral bodies, neonatal death on day 2 after birth | Partial deletion of the ARSL gene |
3 | Zhang et al., 2021 [17] | NA | 24 | M | Short limbs | NA | c.265 A > G p.(Ser89Gly) |
4 | He et al., 2019 [5] | 25 | 23 | M | Flat face, depressed nose bridge, collapsed nasal tip, square upper alveolar; severe spinal stenosis, femoral epiphyseal stippling | NA | c.640G > A p.(Gly214Arg) |
5 | Mazzone et al., 2019 [11] | 24 | 27 | M | A flat nose and abnormal convexity of the maxilla, abnormal epiphyseal ossification centers, short limbs and brachytelephalangy. | Termination of pregnancy at 28 weeks of gestation | c.1743G > A p.(Trp581Ter) |
6 | Boulet S et al., 2010 [8] | NA | 23 | M | Mid-face hypoplasia, femoral stippling, and brachytelephalangy | Marked mid-face hypoplasia, no respiratory distress, additional stippling on calcanei, wrists, upper left humeral epiphysis, normal psychomotor development and less marked Binder phenotype at 6 months old | c.1258 C > T p.(Arg420Trp) |
7 | Nino M et al., 2008, P2 [18] | NA | NA | M | Polyhydramnios, nasal hypoplasia | Delivery by cesarean at 34 weeks, short stature, brachytelephalangy, hypotonia, diffuse cacifications within the respiratory tract resulting in airway stenosis, punctate in the lumbar and sacral posterior spinal processes, bilateral conductive hearing loss, mild development delay | c.119T > G p. (Ile40Ser) |
8 | Nino M et al., 2008, P3 [18] | NA | NA | M | Oliogohydramnios, an extra ossification center at vertebrae L5/S1, and delayed long bone growth | Delivery by cesarean at 38.5 weeks, depressed nasal bridge, nasomaxillary hypolasia, hypotonia, brachytelephalangy, grade 1 hypospadias, calcifications by the sacrum and within the talus and calcanei, normal hearing and psychomotor development at 8 months | c.410G > C p.(Gly137Ala) |
9 | Nino M et al., 2008, P5 [18] | NA | NA | M | Shortened long bones, a hypoplastic nose and vertebral abnormalities | Vaginal delivery at 40 weeks, respiratory distress requiring mechanical ventilation and tracheotomy, short stature, brachytelephalangy, marked hypotonia, hyperreflexia and clonus, punctate in the vertebrae, hands and feet, small optic nerves, moderate to severe conductive hearing loss, cryptorchidism, developmental delay, dependent on mechanical ventilation and gastrostomy tube | c.1226 C > T p.(Thr409Met) |
10 | Horikoshi T et al., 2010 [13] | 34 | 33 | M | Polyhydramnios, shortened long bones, a hypoplastic nose with a depressed nasal bridge, contracture of wrists and fingers. | Mild respiratory problem, poor sucking, distal contracture of bilateral upper extremities, a thin skull and stippled calcification outside of the lumbar, proximal femur and ankle, normal brain morphology and no stenosis of the cervical spinal canal, ichthyosis developed on day 7 after birth | 8.33 Mb deletion on Xp22.33 region including SHOX, CSF2RA, XG, ARSL, NLGN4 and STS genes |