PMC5310945_01
Case 1: Skeletal survey. (A) Lateral skull radiograph shows frontal bossing, protuberance of the forehead which accentuates the craniofacial ratio. (B) Right humerus with rhizomelic (proximal limb) shortening and mild metaphyseal flaring, instead of smooth tapering of the diaphysis to the metaphysis. (C) Left femur with rhizomelic (proximal limb) shortening and metaphyseal flaring, more exaggerated widening of the metaphysis compared with the diaphysis, instead of smooth tapering in a normal long bone. (D) Chest frontal image shows small thorax with short, broad-shaped ribs with some anterior flaring. (E) Lateral view of the spine demonstrates "bullet-shaped" vertebral bodies. Note that they appear wider than tall and some have anterior spurring. (F) Pelvis shows broad, squared ilia, narrow sacrosciatic notches, and a spur in the medial aspect of the flat acetabular roofs (arrow). (G) Trident hand with all phalanges short and broad. There is also widening of spacing between the middle and ring fingers.
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Skeletal survey (Fig. 1A-G) to evaluate for the possibility of a skeletal dysplasia was performed and demonstrated frontal bossing, rhizomelic shortening with flared metaphyses, decreasing interpedicular distance particularly inferiorly in the lumbar spine, thoracic kyphosis with bullet-shaped vertebral bodies, trident hand with short and broad phalanges, and flat acetabular roofs with narrow sacrosciatic notches; these features were consistent with a diagnosis of achondroplasia.
Case 1: Computed tomography. Frontal bossing and severe narrowing of the foramen magnum with stenosis of the craniocervical junction.
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Computed tomography (CT) was requested to rule out compression at the craniocervical junction and demonstrated craniocervical junction stenosis impinging on the brainstem and upper cervical cord (Fig. 2).
Case 1: Portable abdominal radiograph in neonatal intensive care unit. Narrow sacrosciatic notch, flattened iliac wings, and medial acetabular roof spur with flat acetabulae can be retrospectively identified. Spine changes are not visible.
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NICU imaging, subtle pelvic changes including narrowing of the sacrosciatic notches with medial spurs and flat acetabular roofs could be appreciated at 3 and 5 months of life (Fig. 3). Narrowing of the interpedicular distances in the caudal portions of the lumbar spine was obscured by overlying bowel gas.
Case 2: Magnetic resonance imaging. Sagittal image confirmed arachnoid cyst in the region of the velum interpositum and also shows mild frontal bossing, mandibular hypoplasia, and severe stenosis of the craniocervical junction.
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MRI at 5 months of age (term equivalent) to further characterize the cyst confirmed an arachnoid cyst in the velum interpositum, as well as fusion of the posterior intraoccipital synchondroses, severe stenosis of the foramen magnum, mild frontal bossing, ventriculomegaly, and hypoplasia of the mandible (Fig. 4).
Case 2: Portable abdominal radiograph in neonatal intensive care unit. Narrow sacrosciatic notches, medial acetabular roof spurs with flat acetabulae, flat square iliac wings, and mildly bowed proximal femora can be retrospectively identified. Note arrow on sacrosciatic notch which is difficult to see with overlying lines. Spine changes are not visible.
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Retrospective evaluation of NICU imaging confirmed the subtle pelvic changes of narrowing of the sacrosciatic notches with medial spurs and flat acetabular roofs could be appreciated as early as days 1 and 2 of life (Fig. 5).