Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients

Abstract

Background: Achondroplasia is the most common bone dysplasia associated with disproportionate short stature, and other comorbidities, such as foramen magnum stenosis, thoracolumbar kyphosis, lumbar hyperlordosis, genu varum and spinal compression. Additionally, patients affected with this condition have higher frequency of sleep disorders, ear infections, hearing loss and slowed development milestones. Considering these clinical features, we aimed to summarize the regional experts' recommendations for the multidisciplinary management of patients with achondroplasia in Latin America, a vast geographic territory with multicultural characteristics and with socio-economical differences of developing countries.

Methods: Latin American experts (from Argentina, Brazil, Chile and Colombia) particiáted of an Advisory Board meeting (October 2019), and had a structured discussion how patients with achondroplasia are followed in their healthcare centers and punctuated gaps and opportunities for regional improvement in the management of achondroplasia.

Results: Practical recommendations have been established for genetic counselling, prenatal diagnosis and planning of delivery in patients with achondroplasia. An outline of strategies was added as follow-up guidelines to specialists according to patient developmental phases, amongst them neurologic, orthopedic, otorhinolaryngologic, nutritional and anthropometric aspects, and related to development milestones. Additionally, the role of physical therapy, physical activity, phonoaudiology and other care related to the quality of life of patients and their families were discussed. Preoperative recommendations to patients with achondroplasia were also included.

Conclusions: This study summarized the main expert recommendations for the health care professionals management of achondroplasia in Latin America, reinforcing that achondroplasia-associated comorbidities are not limited to orthopedic concerns.

Keywords: Bone dysplasia; Dwarfism; FGFR3; Guideline; Management; Medical practice.

Fig. 1

Radiographic images of achondroplasia in the newborn period. A Generalized platyspondyly leading to an increased height of the intervertebral spaces. The pelvis shows a squared configuration with a horizontalized acetabular roof and narrowness of the sciatic notch. Pubis and mainly ischia are broad. The long tubular bones are shorter with metaphyseal irregularity and the fibulae are greater than tibia. Note the oval-shaped lucent appearance of the proximal femora. B In the lateral view, it is also evident an increased lumbar lordosis. C The cranium is large and both frontal and occipital regions are prominent. D The hand show shortening of all tubular bones – metacarpal and phalanges

Fig. 2

Radiographic images of children with achondroplasia at the ages of 4 (A and C) and 8 years (B and D). A-B Note squared configuration of the pelvis that remains with the years, as well as the narrowness of the sciatic notch. The femoral neck became short. In the lower long bones, the irregularity of metaphysis of the knees shows, with the age, the “chevron” shape of the distal region of femora. C-D The tibia is broad and the fibulae greater than the tibia

Fig. 3

Radiographic images of adults with achondroplasia. A The pelvis shows the same squared shape observed in the early ages, and now the femoral neck is more evident. B In the knees, we can observe the epiphyseal region as broad as metaphysis. Tibiae and fibulae are shorter, however, this last one is longer than the tibiae. C The narrowing of the interpedicular space in the lumbar region is evident in the anteroposterior incidence of the spine X-ray. D In the lateral view of the spine, it can see the concave aspect of the posterior margin of the vertebral bodies. E The hands are short and broad and the ulnar styloid process is prominent

Fig. 4

Summary of the proposed recommendations for the multidisciplinary management of achondroplastic patients. MRI: Magnetic Resonance Imaging, CT: Computed Tomography