Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations. by Wilkie, A

“…The discovery in 1994 that highly specific mutations of fibroblast growth factor (FGF) receptor 3 caused the most common form of human short-limbed dwarfism, achondroplasia, heralded a new era in FGF receptor (FGFR) biology. …”

Chondroectodermal dysplasia (Ellis van Creveld syndrome): A report of three cases with review of literature by Kurian K, Shanmugam S, Harsh Vardah T, Gupta Siddharth

“…Ellis van Creveld syndrome may be differentiated from other chondrodystrophies like achondroplasia, chondroplasia punctata, asphyxiating thorasic dystrophy and Morquio′s syndrome. …”
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CNP, the Third Natriuretic Peptide: Its Biology and Significance to the Cardiovascular System by Yasuaki Nakagawa, Toshio Nishikimi

“…As a result, a CNP analog is now available for clinical use in patients with achondroplasia. In the cardiovascular system, CNP and its downstream signaling are involved in the regulatory mechanisms underlying myocardial remodeling, cardiac function, vascular tone, angiogenesis, and fibrosis, among others. …”
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A new concept of skeletal dysplasias by Beyhan Tüysüz

“…Classifications by the International Working Group on Constitutional Diseases of Bone were based on the mutations in the same group gene taking into consideration the clinical and radiological findings (achondroplasia group, dysplasia with decreased bone density group and type II collagenopathies...). …”
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Joint mobility with particular reference to racial variation and inherited connective tissue disorders. by Wordsworth, B, Ogilvie, D, Smith, R, Sykes, B

“…The results were contrasted with those in a group of normal Asian Indians and patients suffering from a variety of inherited disorders including Type II Ehlers-Danlos syndrome (EDS), Type I osteogenesis imperfecta (OI), Marfan syndrome, generalized osteoarthritis (GOA), achondroplasia and pseudoachondroplasia. The first-degree relatives of ten subjects with severe or lethal OI were also examined. …”

Pseudoachondroplasia: A case report by Radlović Vladimir, Smoljanić Željko, Radlović Nedeljko, Jakovljević Miroslav, Leković Zoran, Dučić Siniša, Pavićević Polina

“…Conclusion. PSACH is an achondroplasia-like rhizomelic dwarfism recognized by the absence of abnormality at birth, normal craniofacial appearance, characteristic epiphyseal and metaphyseal radiographic finding and joint hyperlaxity.…”
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Neonatal osteosclerotic bone dysplasia (Raine syndrome) by Tarun Kumar Girigiri, Tejaswi Reddy, Alimelu Madireddy, Swapna Lingaldinna

“…Based on the radiological phenotype, the differentials considered include Thanatophoric dysplasia, osteopetrosis, and Achondroplasia. Search for concealed anomalies revealed dysmorphic features in the brain and kidneys. …”
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Genetic and clinical approach to macrocephaly: a 5-year single-center study by Muhsin Elmas, Umit Can Yildirim

“…Results: The genetic testing results showed that the most common genetic causes of macrocephaly in the patients were achondroplasia (25%), neurofibromatosis type 1 (12.5%), Sotos syndrome type 1 (12.5%), and Cowden syndrome (12.5%). …”
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Generation of Fgfr3 Conditional Knockout Mice by Nan Su, Xiaoling Xu, Cuiling Li, Qifen He, Ling Zhao, Can Li, Siyu Chen, Fengtao Luo, Lingxian Yi, Xiaolan Du, Haiyang Huang, Chuxia Deng, Lin Chen

“…In clinic, human FGFR3 mutations are responsible for three different types of chondrodysplasia syndromes including achondroplasia (ACH), hypochondroplasia (HCH) and thanatophoric dysplasia (TD). …”
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New Features for Child Metrics: Further Growth References and Blood Pressure Calculations by Korcan Demir, Ergun Konakçı, Güven Özkaya, Belde Kasap Demir, Samim Özen, Murat Aydın, Feyza Darendeliler

“…Various auxological assessments can now be made with data of children with genetic diseases (Prader Willi syndrome, Noonan syndrome, Turner syndrome, Down syndrome, and Achondroplasia) and preterm and term newborns. More detailed reports for height, weight, and body mass index data of a given child are now available. …”
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Combined spinal epidural anesthesia in achondroplastic dwarf for femur surgery by Rochana Girish Bakhshi, Sheetal R. Jagtap

“…Achondroplasia is the commonest form of short-limbed dwarfism and occurs in 1:26,000- 40,000 live births. …”
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Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis. by Rannan-Eliya, S, Taylor, I, De Heer, I, Van Den Ouweland, A, Wall, SA, Wilkie, A

“…An exclusive paternal origin of mutations, and increased paternal age, were previously described for a different mutation (c.1138G>A) of the FGFR3 gene causing achondroplasia, as well as for mutations of the related FGFR2 gene causing Apert, Crouzon and Pfeiffer syndromes. …”

Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS. by Santos, H, Almeida, M, Fernandes, H, Wilkie, A, Wilkie, A

“…In classical achondroplasia (Ach), a glycine residue is replaced by an arginine at codon 380 in exon 10 of the fibroblast growth factor receptor 3 gene (FGFR3). …”

Anestesia em anã acondroplásica obesa mórbida para gastroplastia redutora Anestesia en enana acondroplásica obesa mórbida para gastroplastia reductora Anesthesia for bariatric surg... by Maria Angélica Abrão, Vinícius Gomes da Silveira, Carlos Frederico Loretti Vaz de Almeida Barcellos, Roberta Costa Marques Cosenza, João Régis Ivar Carneiro

“…<br>BACKGROUND AND OBJECTIVES: Achondroplasia is the most common form among the different types of osteochondrodysplasia that cause dwarfism. …”
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A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012 by Cui Yazhou, Zhao Heng, Liu Zhenxing, Liu Chao, Luan Jing, Zhou Xiaoyan, Han Jinxiang

“…The most frequently reported disorders were <it>Marfan syndrome</it>, <it>osteogenesis imperfecta</it>, <it>fibrous dysplasia</it>, <it>mucopolysaccharidosis</it>, <it>multiple cartilaginous exostoses</it>, <it>neurofibromatosis type 1 (NF1)</it>, <it>osteopetrosis</it>, <it>achondroplasia, enchondromatosis (Ollier)</it>, and <it>osteopoikilosis</it>, accounting for 76.5% (12,312 cases) of the total cases. …”
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Anatomic Considerations for Radical Retropubic Prostatectomy in an Achondroplastic Dwarf by Dennis Gyomber, David Angus, Nathan Lawrentschuk

“…We review relevant literature regarding general, urological, and orthopedic abnormalities of achondroplasia (ACH) and present a clinical case. No reports of RRP in achondroplastic dwarfs exist, with only one case of an abandoned RRP due to similar pelvic anatomy in a patient with osteogenesis imperfecta. …”
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"Selfish spermatogonial selection": a novel mechanism for the association between advanced paternal age and neurodevelopmental disorders. by Goriely, A, McGrath, J, Hultman, C, Wilkie, A, Malaspina, D

“…First identified in association with rare disorders related to paternal age (e.g., Apert syndrome, achondroplasia), this process is known as "selfish spermatogonial selection." …”

Linkage studies of a Missouri kindred with autosomal dominant spondyloepimetaphyseal dysplasia (SEMD) indicate genetic heterogeneity. by Gertner, J, Whyte, M, Dixon, P, Pang, J, Trump, D, Pearce, S, Wooding, C, Thakker, R

“…Mutations of COL2A1, COL9A2, COL10, and FGFR3 have been reported previously in the Strudwick type of SEMD, multiple epiphyseal dysplasia type 2 (EDM2), the Schmid type of metaphyseal dysplasia, and in achondroplasia, respectively, and the pseudoachondroplasia (PSACH) locus has been mapped to chromosome 19p12. …”

A single nucleotide mutation in <it>Nppc </it>is associated with a long bone abnormality in <it>lbab </it>mice by Roe Bruce A, Li Xinmin, Donahue Leah, Yang HongBin, Yan Jian, Jiao Feng, Jiao Yan, Stuart John, Gu Weikuan

“…The <it>lbab </it>mouse is a useful model for hereditary human achondroplasia.</p>…”
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Functional robustness of adult spermatogonial stem cells after induction of hyperactive Hras. by Makiko Yamada, Winson Cai, Laura A Martin, Thierry N'Tumba-Byn, Marco Seandel

“…De novo gain-of-function mutations in the FGF-RAS-MAPK signaling pathway are known to cause a subset of genetic diseases associated with advanced paternal age, such as Apert syndrome, achondroplasia, Noonan syndrome, and Costello syndrome. …”
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