Table 2 Clinical findings in SRPS cases with IFT43 mutations

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