In addition, the patient has had two subsequent mandibular debulking procedures performed with some difficulty due to his difficult endotracheal intubation, stridor and excessive oral secretions. Figure 3 Frontal radiographs lower extremities. [nature.com]

There were no café au lait spots or other skin lesions and the sclerae were white. A skeletal survey ( Figure 1 ) and a head and neck CT ( Figure 2 ) were performed after referral to the genetics clinic. [nature.com]

Siris is the immediate past president of the National Osteoporosis Foundation and currently serves on the Board of Trustees of both the National Osteoporosis Foundation in the US and the International Osteoporosis Foundation. [books.google.de]

These conditions are Bruck syndrome, familial calvarial doughnut lesions with osteoporosis, osteoporosis pseudoglioma syndrome and gnathodiaphyseal dysplasia. [nature.com]

Osteogenesis imperfecta- Levin type * Frequent jaw infections * Blue eyes * Brittle bones * Fractures Causes - Osteogenesis imperfecta- Levin type * 14q syndrome * 18p minus syndrome * 1q deletion * 1q terminal deletion * 2-methylbutyryl * Low bone mass * Osteoporosis [checkorphan.org]

[…] references Very frequent - Autosomal dominant inheritance - Bowed diaphysis / diaphyses / long bones - Cortical anomaly / thick bone cortical layer - Enlargment of jaw / large jaw Frequent - Osteomyelitis / osteitis / periostitis / spondylodisciitis - Osteoporosis [csbg.cnb.csic.es]

fractures, and bowing/sclerosis of tubular bones. [semanticscholar.org]

To prevent recurrent fractures, pharmacological therapy for bone fragility may be considered. [bmcmusculoskeletdisord.biomedcentral.com]

However, because of the absence of detectable mutations in the precursors of type I collagen, this diagnosis was essentially excluded. 1 There are several rare genetic conditions also present as severe osseous fragility and recurrent fractures, several [nature.com]

GNATHODIAPHYSEAL DYSPLASIA; GDD Is also known as osteogenesis imperfecta with unusual skeletal lesions, gnathodiaphyseal sclerosis;gdd Related symptoms: Autosomal dominant inheritance Scoliosis Osteopenia Recurrent fractures Sinusitis SOURCES: SCTID MONDO [mendelian.co]

Case presentation A 3350 g infant was born at term to a 33-year old gravida 2, para 1 mother by cesarean section due to the sonographic finding of fractures and bowing of long bones in utero, raising the possibility of osteogenesis imperfecta. [nature.com]