facial features Coarse facial appearance 0000280 Diabetic ketoacidosis 0001953 Facial hyperostosis Enlargment of the facial bones Excessive growth of facial bones Excessive growth of facial skeleton Increase in size of the facial bones Overgrowth of [rarediseases.info.nih.gov]

Hunt in 1953, who introduced the eponymic term Voorhoeve's. Bibliography N. Voorhoeve: L’image radiologique non encore décrite d’une anomalie du squélette. Ses rapports avec la dyschondroplasie et l'osteopathia condensans disseminata. [whonamedit.com]

A case of osteopathia striata, childhood cataracts, short stature, elbow deformity, and microdontia with rhizomicry in a white male is reported. The report includes a detailed analysis of dental changes. [ncbi.nlm.nih.gov]

This finding provides further evidence that, at least in some instances, the bone disorder has a progressive course. [ncbi.nlm.nih.gov]

Interestingly, whereas Wnt is somatically inactivated in 30% of Wilms tumor patients, no increased incidence of cancer is found in the osteopathia striata or in any other sclerosing bone disorder related to activation of the Wnt pathway. [iofbonehealth.org]

Sclerosing bone disorders. Best Pract Res Clin Rheumatol. 2008; 22:71-83. 22. Di Primio G. Benign spotted bones: a diagnostic dilemma Canadian Med Association J. 2011; 183:456-459. 23. Dissing I., Zafirovski G. [journal.rniito.org]

Skeletal survey revealed mild osteopenia, interpediculate narrowing of the lumbar spine with short neural arches and, most important, osteopathia striata of the long tubular bones. There was no sclerosis of the craniofacial bones. [ncbi.nlm.nih.gov]

The characteristic features exhibited by the patient in this case report were dense maxillary and mandibular bone, a high forehead with frontal bossing, a broad nasal bridge, prominent zygomatic arches and thickened angles of the mandible. [ncbi.nlm.nih.gov]

Craniofacial anomalies included a sloping forehead, bitemporal bulging, sparse medial eyebrows, a prominent nasal bridge, hypertelorism, proptosis, a beaked nose, hypoplastic alae nasi and a pointed chin. [ncbi.nlm.nih.gov]

Craniofacial anomalies included a sloping forehead, bitemporal bulging, sparse medial eyebrows, a prominent nasal bridge, hypertelorism, proptosis, a beaked nose, hypoplastic alae nasi and a pointed chin. [ncbi.nlm.nih.gov]

Typically affected females show macrocephaly, characteristic facial appearance, cleft palate, mild learning difficulties, hearing loss, sclerosis of the long bones and skull, and longitudinal striations visible on radiographs of the long bones, pelvis [ncbi.nlm.nih.gov]

The radiographic findings include cranial sclerosis, linear striations in the long bones and iliac wings, small poorly aerated sinuses, scoliosis, and increased bone density. [ncbi.nlm.nih.gov]

Increased bone density without modifcation of bone shape Osteopetrosis precocious type Generalised AR delayed type Type 1 uniform AD intermediate type Type 2 endobones with renal tubular Generalised AR AR acidosis Similar other types Axial osteosclerosis [medical-dictionary.thefreedictionary.com]

The mouth opening was limited as a result of sclerosis of the m... more Stephen Robertson and colleagues report that germline mutations in WTX cause an X-linked sclerosing bone dysplasia marked by increased bone density and craniofacial malformations [scinapse.io]

Genes Chromosomes Cancer 47 : 461 – 470 7 2009 Mutational analysis of WTX gene in Wnt/β-catenin pathway in gastric, colorectal, and hepatocellular carcinomas. [academic.oup.com]