To the Editor:Pyle's disease (OMIM: %265900) is a rare autosomal recessive skeletal dysplasia, characterized by a massive expansion of metaphyseal trabecular bone with significant cortical thinning . These changes are particularly obvious in the distal part of the femora, showing an Erlenmeyer flask deformity. Mild cranial sclerosis and mild platyspondyly can also be observed . Clinical phenotype includes genu valgum of variable severity, metaphyseal fractures because of cortical thinning, and teeth problems (prolonged retention, delayed eruption, misalignment, caries) . The genetic cause of Pyle's disease has remained elusive until the very recent report of mutations in SFRP4 in four affected patients . We report here the molecular characterization by whole genome sequencing (WGS) of a two‐generation family harboring a novel SFRP4 mutation, confirming the causative role of this gene in Pyle's disease.Patient 1 (VI4, Fig. ) was born to Algerian healthy consanguineous parents. She presented at the age of 18 months with genu valgum. Her occipitofrontal circumference (OFC), length and weight were normal (respectively, 47 cm, 0 SD; 84 cm, +1.5 SD; 10.4 Kg, 0 SD). She had four normal teeth. Skeletal survey was consistent with Pyle's disease (Fig. ). Abdominal ultrasound scan, blood levels of calcium, phosphate, alkaline phosphatase, parathyroid hormone, and
Clinical Genetics – Wiley
Published: Jul 1, 2017
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