Neurofibromatosis 1 is an autosomal dominant disorder characterized by multiple café-au-
lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, and iris Lisch …

The skeleton is frequently affected in individuals with neurofibromatosis type 1, and some of
these bone manifestations can result in significant morbidity. The natural history and …

Background: Patients with neurofibromatosis 1 (NF1) are shorter than expected and often
have low bone mineral density (BMD), but the pathogenesis of these bony problems is …

Individuals with neurofibromatosis type-1 (NF1) can manifest focal skeletal dysplasias that
remain extremely difficult to treat. NF1 is caused by mutations in the NF1 gene, which …

Bone density impairment represents an established complication in adults with
neurofibromatosis type 1, while few data exist in the pediatric population. Age-and gender …

Hypophosphatasia (HPP) is an inherited disorder that affects bone and tooth mineralization
characterized by low serum alkaline phosphatase. HPP is caused by loss-of-function …

Although musculoskeletal abnormalities have long been described in patients with Noonan
syndrome (NS), only a few studies have investigated the bone status of these patients. The …

Neurofibromatosis type 1 is a genetic syndrome characterized by a wide variety of tumor and
non-tumor manifestations. Bone-related issues, such as scoliosis, tibial dysplasia, and low …

Abstract Background Neurofibromatosis type 1 (NF1) is a genetic autosomal
neurocutaneous syndrome correlated with skeletal dysplasia and defects in the osseous …

Bone metabolism has been rarely investigated in children affected by Neurofibromatosis
type 1 (NF1). Aim of the present study was to assess bone mineral metabolism in children …