Hypophosphatasia

Figure 2.48. Radiograph of the hand in an infant with Ellis-van Creveld syndrome. Note that the phalanges are short but that the proximal phalanges are relatively long compared to the others. Adults, therefore, cannot make a tight fist. Also note the fusion of the fifth and sixth metacarpals.

Infant Dwarfism

Figure 2.49. Short-limbed dwarfism in an infant with congenital hypophosphatasia. There is failure of calcification of all bones resulting in marked bowing. This autosomal recessive condition is associated with a severe deficiency of tissue and serum alkaline phosphatase. It presents with bowed lower extremities with overlying cutaneous dimpling and short ribs resulting in a small thoracic cage. Death usually occurs from respiratory insufficiency.

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Figure 2.49. Short-limbed dwarfism in an infant with congenital hypophosphatasia. There is failure of calcification of all bones resulting in marked bowing. This autosomal recessive condition is associated with a severe deficiency of tissue and serum alkaline phosphatase. It presents with bowed lower extremities with overlying cutaneous dimpling and short ribs resulting in a small thoracic cage. Death usually occurs from respiratory insufficiency.

Infant Hypophosphatasia
Figure 2.50. Close-up view of the arm of the same infant showing the marked bowing at the forearm.

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Figure 2.51. The lower right leg of the same infant showing the marked bowing with a large skin dimple over the middle of the leg. This is a classic physical sign in infants with congenital hypophosphatasia.

Infant Fontanelle Closure
Figure 2.52. Radiograph of the upper extremity showing the osteoporosis and metaphyseal flaring with marked bowing of the radius and ulna bilaterally.

Figure 2.53. Radiograph of die lower extremities of the same infant showing the gross osteoporosis and metaphyseal flaring with marked bowing of the femora, tibiae and fibulae.

Figure 2.54. Radiograph of the skull of an infant with congenital hypophosphatasia. Note the marked lack of mineralization with deformity of the skull. Characteristic is the large size of the skull, shortened base, and a shallow sella turcica. There is late closure of the fontanelles. This appearance is comparable to the skull seen in infants with osteogenesis imperfecta.

Musculoskeletal Disorders

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Infant Fontanelle Closure

Figure 2.55. Radiograph of the skull of another infant with congenital hypophosphatasia. Note that some mineralization is present but that it is very poor.

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Figure 2.55. Radiograph of the skull of another infant with congenital hypophosphatasia. Note that some mineralization is present but that it is very poor.

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Baby With Abnormally Big StomachJeune Thoracic Dystrophy Syndrome

Figure 2.56. In this infant with asphyxiating thoracic dystrophy (Jeune's syndrome) note the abnormally long and narrow thorax with high clavicles and a large abdomen. The narrow thorax due to short ribs results in limited chest wall movement. As a result of this, there is a lack of space in the subcostal area and the liver lies completely in the abdomen. These infants may have hypoplastic lungs and renal pathology in the form of cystic tubular hypoplasia and/or glomerular sclerosis.

Figure 2.56. In this infant with asphyxiating thoracic dystrophy (Jeune's syndrome) note the abnormally long and narrow thorax with high clavicles and a large abdomen. The narrow thorax due to short ribs results in limited chest wall movement. As a result of this, there is a lack of space in the subcostal area and the liver lies completely in the abdomen. These infants may have hypoplastic lungs and renal pathology in the form of cystic tubular hypoplasia and/or glomerular sclerosis.

Figure 2.57. Another infant with asphyxiating thoracic dystrophy. Again note the small thorax due to short ribs, the high clavicles and what appears to be abdominal distention due to the fact that the whole liver is in the abdomen. These infants give the appearance of having widely spaced nipples. There is shortening of the arms and legs as well as an inability to extend the forearm at the elbow joint. The condition is autosomal recessive.

Asphyxiating Thoracic Dystrophy

Figure 2.58. Anteroposterior and lateral radiograph of an infant with asphyxiating thoracic dystrophy. Note the short ribs which are horizontally placed, giving the appearance of a long narrow chest. The heart is normal in size but appears to be large because of the narrow thorax. Note the high clavicles, which are of normal size.

Figure 2.58. Anteroposterior and lateral radiograph of an infant with asphyxiating thoracic dystrophy. Note the short ribs which are horizontally placed, giving the appearance of a long narrow chest. The heart is normal in size but appears to be large because of the narrow thorax. Note the high clavicles, which are of normal size.

Ribs Infant
Figure 2.59. Radiograph of an infant with asphyxiating thoracic dystrophy. Note the very short ribs with a long narrow chest and the high clavicles.

Figure 2.60. Radiograph of the pelvis of an infant with asphyxiating thoracic dystrophy. Note the hy-poplastic iliac wings and flattened acetabula with spike-like projections at the lower margins of the sciatic notches.

Figure 2.60. Radiograph of the pelvis of an infant with asphyxiating thoracic dystrophy. Note the hy-poplastic iliac wings and flattened acetabula with spike-like projections at the lower margins of the sciatic notches.

Female Genitalia Deformity
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