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Archives de pédiatrie
Volume 24, n° 5S2
pages 574-579 (mai 2017)
Doi : 10.1016/S0929-693X(18)30019-8
Hypophosphatasia: the contribution of imaging
Hypophosphatasie : apport de la radiologie

Figure 1

Figure 1 : 

Antenatal imaging of hypophosphatasia.

1A. Fetal CT scan at 32 WA. Note the absence of mineralization of the roof of the skull (arrow 1), thin ribs, and metaphyseal peaks (arrow 2). The infant died of respiratory insufficiency 12 hours after birth.

1B. Fetal CT scan at 32 WA. Curved long bones (arrow 3). Main differential diagnosis: Osteogenesis Imperfecta.

1C. Ultrasound showing radial curving (arrow 4) and fractures (arrow 5) confirmed by postnatal radiography (arrow 6) (severely defective skeletal mineralization), images after [14].

Figure 2

Figure 2 : 

Radiological characteristics of hypophosphatasia (HPP) in children.

2A. Radiography of the left hand of a boy aged 6 years with recessive autosomal HPP (compound heterozygous mutations). Note the defective mineralization of the radial metaphysis (yellow arrow 1) and ulnar (2) with a ‘lick’ appearance.

2B. Standing weight bearing radiography of the same patient’s legs showing genu varum , the same hypomineralization lesions of the inferior femoral metaphyses (arrow 1) and muscle deficiency (3).

2C. Whole body MRI of a girl aged 12 years with dominant autosomal HPP. Bilateral lesions of the proximal metaphyseal and diaphyseal regions of the humerus evidenced by STIR hypersignal; bilateral lesions of the same type affecting the proximal metaphyseal and diaphyseal regions of both femurs, more marked at the knees (femoral and tibial epiphyseal regions) and ankles.

Figure 3

Figure 3 : 

Radiological characteristics of hypophosphatasia in adults.

3A. Stress fracture of the fourth metatarsal (arrow 1).

3B. Pseudo-fracture of the lateral cortex undergoing consolidation. Images derived from [15].

Figure 4

Figure 4 : 

Imaging craniosynostosis

4A. Radiography of the skull showing the typical presentation of craniosynostosis with chronic intracranial hypertension and digitiform impressions.

4B. Preoperative brain CT scan and three-dimensional reconstruction; partial closure of the sutures; digitiform impressions visible.

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