Longitudinal Observation of a Patient with Leri-Weill Dyschondrosteosis and SHOX Haploinsufficiency

Haploinsufficiency of the short stature homeobox-containing (SHOX) gene causesTurner skeletal features, a certain proportion of idiopathic short stature and Leri-Weilldyschondrosteosis (LWD). Here we report a Japanese female with LWD. Her physical growth,skeletal deformity, and endocrine status were recorded longitudinally. She exhibited aconstant growth rate (average + 6.2 cm/yr) from 6 to 9 yr old, followed by a downwardshift at 10 yr old. Her final height was 135 cm (–4.4 SD for an adult female) and weightwas 50.5 kg (–0.3 SD) at 12 yr and 10 mo old. Mesomelia and cubitus valgus were noticedfrom 2 yr old, and metaphyseal lucency and epiphyseal hypoplasia of the medial side of thedistal radius were detected at 6 yr old. Madelung deformity was obvious at 10 yr old, whenmenarche occurred. Fluorescence in situ hybridization (FISH) analysis demonstrated asingle copy of the SHOX gene. The short stature of the patient was thought to beexaggerated by the combination of SHOX haploinsufficiency and relatively earlypuberty.