Clinical and Radiological Characteristics of 22 Children with SHOX Anomalies and Familial Short Stature Suggestive of Léri-Weill Dyschondrosteosis

<i>Aims:</i> To describe genetic, clinical, anthropometric and radiological characteristics of 22 children with <i>SHOX</i> gene anomalies and familial short stature suggestive of Léri-Weill dyschondrosteosis. <i>Methods:</i> Monocentric retrospective observational study. <i>Results:</i> Six children (27%) presented with deletions located downstream of <i>SHOX</i> (mean height –1.4 ± 0.9 SDS) and 16 (68%) with either deletions encompassing <i>SHOX</i>, intragenic deletions or point mutations of <i>SHOX</i> (mean patient height for the 3 latter types of anomalies: –2.6 ± 0.8 SDS). In our sample, the two most frequently observed dysmorphic signs were clinical and/or radiological Madelung deformity (86%) and high arched palate (77%). Half the girls were born small for gestational age. Sixteen children treated with recombinant growth hormone had an increase in height from –2.7 ± 0.7 to –1.4 ± 0.7 SDS. Four children achieved adult height (–2.0 ± 0.9 SDS) with a gain over baseline height of 1.0 ± 0.5 SDS after a mean treatment duration of 5.8 ± 2.1 years. <i>Conclusion:</i> Patients shared common clinical, anthropometric and radiological signs but their height deficit varied, depending on the type of the <i>SHOX</i> gene anomaly. Due to the small size of our sample, our findings need to be confirmed in a larger population of patients.