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Non lethal Raine syndrome and differential diagnosis.
Elalaoui SC, Al-Sheqaih N, Ratbi I, Urquhart JE, O'Sullivan J, Bhaskar S, Williams SS, Elalloussi M, Lyahyai J, Sbihi L, Cherkaoui Jaouad I, Sbihi A, Newman WG, Sefiani A. Elalaoui SC, et al. Eur J Med Genet. 2016 Nov;59(11):577-583. doi: 10.1016/j.ejmg.2016.09.018. Epub 2016 Sep 22. Eur J Med Genet. 2016. PMID: 27667191
Raine syndrome is a rare autosomal recessive bone dysplasia characterized by characteristic facial features with exophthalmos and generalized osteosclerosis. Amelogenesis imperfecta, hearing loss, seizures, and intracerebral calcification are apparent in some affect …
Raine syndrome is a rare autosomal recessive bone dysplasia characterized by characteristic facial features with exophthalmos and general …
Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis.
Sarac Sivrikoz T, Kalayci T, Senturk L, Karaman V, Kalelioglu IH, Has R, Kayserili H, Uyguner ZO, Nishimura G, Altunoglu U. Sarac Sivrikoz T, et al. Prenat Diagn. 2022 Nov;42(12):1503-1510. doi: 10.1002/pd.6208. Epub 2022 Jul 20. Prenat Diagn. 2022. PMID: 35808914
OBJECTIVE: Blomstrand osteochondrodysplasia (BOCD, MIM #215045) is an ultrarare lethal skeletal dysplasia (LSD) perinatally, characterized by extremely advanced bone maturation, generalized osteosclerosis, and severe tetramicromelia caused by biallelic loss-of-funct …
OBJECTIVE: Blomstrand osteochondrodysplasia (BOCD, MIM #215045) is an ultrarare lethal skeletal dysplasia (LSD) perinatally, characterized b …
A case of Raine syndrome presenting with facial dysmorphy and review of literature.
Sheth J, Bhavsar R, Gandhi A, Sheth F, Pancholi D. Sheth J, et al. BMC Med Genet. 2018 May 11;19(1):76. doi: 10.1186/s12881-018-0593-x. BMC Med Genet. 2018. PMID: 29751744 Free PMC article. Review.
BACKGROUND: Raine syndrome (RS) - an extremely rare autosomal recessive genetic disorder, is caused by a biallelic mutation in the FAM20C gene. Some of the most common clinical features include generalized osteosclerosis with a periosteal bone formation, dysmorphic …
BACKGROUND: Raine syndrome (RS) - an extremely rare autosomal recessive genetic disorder, is caused by a biallelic mutation in the FAM20C ge …
New explanation for autosomal dominant high bone mass: Mutation of low-density lipoprotein receptor-related protein 6.
Whyte MP, McAlister WH, Zhang F, Bijanki VN, Nenninger A, Gottesman GS, Lin EL, Huskey M, Duan S, Dahir K, Mumm S. Whyte MP, et al. Bone. 2019 Oct;127:228-243. doi: 10.1016/j.bone.2019.05.003. Epub 2019 May 11. Bone. 2019. PMID: 31085352
In both families the LRP6 mutation co-segregated with striking generalized osteosclerosis and hyperostosis. Clinical features shared by the seven LRP6 HBM family members and ten LRP5 HBM patients included a broad jaw, torus palatinus, teeth encased in bone and, repo …
In both families the LRP6 mutation co-segregated with striking generalized osteosclerosis and hyperostosis. Clinical features …
Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene.
Markova TV, Kenis V, Melchenko E, Guseva D, Osipova D, Galeeva N, Nagornova T, Dadali EL. Markova TV, et al. Mol Genet Genomic Med. 2022 May;10(5):e1904. doi: 10.1002/mgg3.1904. Epub 2022 Mar 21. Mol Genet Genomic Med. 2022. PMID: 35315254 Free PMC article.
BACKGROUND: Pycnodysostosis (PD, OMIM # 265800) is a rare variant of skeletal dysplasia with an autosomal recessive type of inheritance, characterized by a combination of specific features such as disproportionate nanism, generalized osteosclerosis, and distinct cra …
BACKGROUND: Pycnodysostosis (PD, OMIM # 265800) is a rare variant of skeletal dysplasia with an autosomal recessive type of inheritance, cha …
Report of a case of Raine syndrome and literature review.
Seidahmed MZ, Alazami AM, Abdelbasit OB, Al Hussein K, Miqdad AM, Abu-Sa'da O, Mustafa T, Bahjat S, Alkuraya FS. Seidahmed MZ, et al. Am J Med Genet A. 2015 Oct;167A(10):2394-8. doi: 10.1002/ajmg.a.37159. Epub 2015 May 14. Am J Med Genet A. 2015. PMID: 25974638
We report on a case of Raine syndrome with a mutation in FAM20C and typical phenotypic features consisting of midface hypoplasia, hypoplastic nose, choanal atresia, wide fontanelle, exophthalmos, generalized osteosclerosis and intracranial calcification. New feature …
We report on a case of Raine syndrome with a mutation in FAM20C and typical phenotypic features consisting of midface hypoplasia, hypoplasti …
Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome.
Ababneh FK, AlSwaid A, Youssef T, Al Azzawi M, Crosby A, AlBalwi MA. Ababneh FK, et al. Am J Med Genet A. 2013 Dec;161A(12):3155-60. doi: 10.1002/ajmg.a.36160. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 24039075
Raine syndrome is an autosomal recessive disorder caused by mutations in the FAM20C gene that is characterized by generalized osteosclerosis with periosteal new bone formation and distinctive craniofacial dysmorphism. ...
Raine syndrome is an autosomal recessive disorder caused by mutations in the FAM20C gene that is characterized by generalized oste …
A unique case of adult hypophosphatemic osteomalacia.
Edelson GW, Shih MS, Parfitt AM. Edelson GW, et al. Bone. 1993 Sep-Oct;14(5):707-10. doi: 10.1016/8756-3282(93)90200-t. Bone. 1993. PMID: 8268043
Clinically, his spinal movements were quite impaired and there was moderate proximal muscle weakness. On skeletal radiographs, there was generalized osteosclerosis and multiple ligamentous calcifications. ...
Clinically, his spinal movements were quite impaired and there was moderate proximal muscle weakness. On skeletal radiographs, there was …
Infantile malignant osteopetrosis: a rare cause of neonatal hypocalcemia.
Engiz O, Kara S, Bagrul D, Lahr G, Alioglu B, Arikan I, Bilge YD. Engiz O, et al. J Pediatr Endocrinol Metab. 2012;25(11-12):1205-7. doi: 10.1515/jpem-2012-0129. J Pediatr Endocrinol Metab. 2012. PMID: 23329773
Infantile malignant osteopetrosis (IMO; OMIM 259700) is a rare inherited bone disease characterized by reduced or dysregulated activity of osteoclasts, resulting in generalized osteosclerosis. The disease usually presents within the first few months of life with ane …
Infantile malignant osteopetrosis (IMO; OMIM 259700) is a rare inherited bone disease characterized by reduced or dysregulated activity of o …
A rare case of multiple sclerosis and cerebral hemorrhage associated with osteopetrosis.
Kaya D, Tüzün E, Dinçer A, Pamir MN, Kürtüncü M. Kaya D, et al. Diagn Interv Radiol. 2010 Mar;16(1):16-9. doi: 10.4261/1305-3825.DIR.1708-08.1. Epub 2009 Oct 5. Diagn Interv Radiol. 2010. PMID: 19813169 Free article.
Bone marrow failure, pathologic fractures, and neurologic deficits are common. Osteopetrosis is diagnosed on radiographs. Patients have generalized osteosclerosis, and radiographs may show evidence of fractures. ...
Bone marrow failure, pathologic fractures, and neurologic deficits are common. Osteopetrosis is diagnosed on radiographs. Patients have g …
19 results