Table 2.
Clinical findings in SRPS cases with IFT43 mutations
| Case | R06-303A | R03-121 | R03-342 | R10-483 |
|---|---|---|---|---|
| Clinical findings | ||||
| Diagnosis | SRP II | SRP II | SRPII | SRPII |
| Gestational age at delivery | 30 weeks (R06-303A); 18.6 weeks (R06-303E) | 18 weeks | 22 weeks | 23 weeks |
| Prenatal findings | Small chest, polydactyly, micromelia (both A and E) | Short thoracic circumference, polydactyly, cystic hygroma. Choroid plexus cysts, echogenic kidneys, micromelia | Cystic hygroma, echogenic kidneys and bowel, ascites, polydactyly, micromelia | Increased nuchal fold, hydrops, echogenic bowel, micromelia |
| Gene | IFT43 | IFT43 | IFT121/WDR35 | IFT121/WDR35 |
| Postnatal clinical and radiographic findings | ||||
| Cranium | Dolichocephaly | Poor mineralization of the calvarium | Scalp edema, low set ears | Scalp edema |
| Neuro | Brain with abnormal folding of the left hippocampus, neuroglial heterotopias in the roof of the temporal horn, and mildly dilated ventricles | Mild hydrocephalus | N/A | N/A |
| Eyes | Hypertelorism, bilateral epicanthal folds | No reported abnormalities | Hypertelorism | N/A |
| Mouth | Thin upper lip, attached to maxilla by mucosal fold, micrognathia | No reported abnormalities | Thin upper lip and micrognathia | N/A |
| Thorax | Small chest, abnormally bent ribs, mild platyspondyly | Narrow and barrel shaped chest, short, bent and decreased number of ribs (11), vertebrae flattened and abnormally wedged with round anterior ends | Narrow and barrel shaped chest, short and bent ribs, handlebar clavicles | Very short, variably bent ribs, handlebar clavicles |
| Gastrointestinal | Liver with ductal abnormalities, pancreas with stellate area of fibrosis in the tail | Malrotation of the intestines | N/A | N/A |
| Renal | Abnormal maturation of the kidneys with a poorly formed nephrogenic zone, thin cortex and medulla, and fibrosis | Polycystic kidneys | N/A | N/A |
| Upper extremities | Micromelia, reverse campomelia of humeri, curved radii, and ulnae | Micromelia, decreased mineralization with curved radii and ulnae | Micromelia with bowing of the radii and ulnae | Micromelia with bowing of the radii and ulnae |
| Pelvis | Abnormal ilia | Abnormal Ilia with decreased height, narrow sciatic notch, hypoplastic ischium | Abnormal ilia with abnormal absent sciatic notch and unformed acetabular roof | Flat acetabular roof, narrow sacrosciatic notch |
| Lower extremities | Micromelia, thin fibulae | Micromelia, angulated femur, hypoplastic tibae and fibulae | Micromelia | Micromelia, bending of the tibae and fibulae |
| Hands and feet | Postaxial polydactyly with brachydactyly, bilateral simian creases, bilateral partial syndactyly of the second and third toes | Preaxial polydactyly, brachydactyly and aphalangia in hands | Postaxial polydactyly in the hands and feet, and aphalangia in the hands | Poor mineralization of the hands and feet, no polydactyly |
N/A not available