PMC4204300_01
Fetus at 35 weeks of gestation diagnosed with Grebe syndrome. 3DCT scan-based phenotype a) Anterior view shows a large frontal area associated with bossing, depressed nasal bridge (short white arrow), hypertelorism, short snub nose, long philtrum, thin upper lip, microstomia, full cheeks, short thorax, a large bulging abdomen, oligodactyly (long white arrow), and genu recurvatum (black arrowheads). b) Lateral view shows low-set ears with folding defect (black arrow), short neck, severe shortening of the upper and the lower limbs with flexion contracture and oligodactyly (white arrows).
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F1
Three-dimensional (3D) CT scan-based phenotype at gestational age of 35 weeks showed a large frontal area associated with bossing, depressed nasal bridge, hypertelorism, short snub nose, long philtrum, thin upper lip, microstomia, full cheeks, short thorax, a large bulging abdomen, oligodactyly, and genu recurvatum [Figure 1a]. Severe shortening of the upper and lower limbs with flexion contracture and oligodactyly was also found [Figure 1b].
Fetus at 35 weeks of gestation diagnosed with Grebe syndrome. Reconstruction skeletal CT scan a) Anterior view shows markedly opened anterior fontanel (black arrow), defective development of the shoulder girdle, dysplastic lateral parts of the clavicles, aplasia of the glenoids (white arrow), marked tilting of the scapulae, rudimentary humeri, aplasia of the radius on the right side (radial club hand and dislocation) (white arrowhead), and dysplastic radius and ulna of the left forearm associated with severe defective ossification of the carpals (vertical white arrow), though ossification of the distal phalanges of three digits is evident to a certain extent (long white arrow). b) Posterior view shows markedly opened posterior fontanel (long white arrow), ill-defined cranio-cervical junction (short white arrow), and no anatomical landmark of the odontoid (long white arrow), associated with fusion of the posterior arches of C3-C4 (black arrowhead).
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F2
Rudimentary humeri, aplasia of the radius on the right side and dysplastic radius and ulna of the left forearm associated with severe defective ossifications of the carpals were also found., though ossification to a certain extent of the distal phalanges of three digits was evident [Figure 2a]. Posterior view of the reconstruction skeletal CT scan showed markedly opened posterior fontanel, ill-defined cranio-cervical junction, and no anatomical landmark of the odontoid, associated with fusion of the posterior arches of C3-4 [Figure 2b].
Fetus at 35 weeks of gestation diagnosed with Grebe syndrome. Skeletal 3DCT scan confirms large skull and massive ossification defects along the anterior fontanel (black thick arrow), severe gap along the coronal suture (short black arrow) and another massive gap (defective ossification) along the metopic suture (long black arrow). The ischium appears markedly dysplastic and is associated with double ossification of the capital femoral epiphyses (vertical black arrow) (severe dysplasia of the pelvic girdle), aplasia of the left tibia and fibula (black arrowhead) and presence of a rudimentary right tibia (long black arrow).
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F3
Also found were aplasia of the left tibia and fibula, and a rudimentary right tibia [Figure 3].