ESPE Abstracts

Introduction: Achondroplasia is the most common of the skeletal dysplasias and short stature with severe anatomic disproportion. Bone endochondrial growth is affected. The entity was described by Depaul in 1851 and the name which comes from the Greek word chondros (cartilage) and plasis (formation) was given by Parrot. It is an autosomal dominant monogenic disease with complete penetrance. Incidence is 1/25000 to 1/40000 of live births. It is caused by a mutation of the gene of fibroblast growth factor (FGFR3) located on the short arm of chromosome 4. Diagnosis is clinical and patients present with asymmetrical short stature, poor development of the solid middle phase, flattening of the middle phase, flat nasal bridge, small thorax, thin ribs, elbow limitation, hypotonic trunk with macrocranium, flat chest, prominent abdomen, thoracolumbar kyphosis, lumbar hyperlordosis, articular hypermobility and bowing of the middle segment of the leg. Diagnosis of hypoachondroplasia and thanatophoric dwarfism types I and ii should be considered. Males reach 131±5.6 cm and women 124±5.9 cm. There are many complications and reduced life span requiring a multidisciplinary management.

Objective: To characterize patients with achondroplasia seen in the Pediatric Endocrinology Clinic of Club Noel of Cali, Colombia between June of 2015 and June of 2020, an observational descriptive type of number of cases.

Materials and Methods: Review of clinical charts during the established period.

Results: We found 8 patients with equal sex distribution. 75% of cases were diagnosed in utero and 87.5% were born full term (Range 29 to 40 weeks). Average weight at birth of 3.388 kg and height of 47 cm. Clinical findings in percentage are shown: 100% of patients had: Macrocranium, Middle phase hypoplasia, Lumbar hyperlordosis .Disproportion of segments, Rhizomelia.Short stature.The 85% had Trident hand and Hydrocephalus to 25%.Hypothyroidism and hypoacusia were not present in any of the patients. In 37.5% lower limb surgery was required with bone elongation in 25%. Mutation of FGFR3 gene was confirmed in 4 patients. Mean final growth was 127 cm, 138 cm the male and 122 cm the female.

Analysis: The clinical expression showed 100% penetrance of the disease. Patients with achondroplasia consult for asymmetrical short stature with bone and neurologic abnormalities requiring a multidisciplinary approach to improve the quality of life.