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Hypochondroplasia

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https://www.readbyqxmd.com/read/29150894/unique-association-of-hypochondroplasia-with-craniosynostosis-and-cleft-palate-in-a-mexican-family
#1
Ariadna González-Del Angel, Alan Caro-Contreras, Miguel Angel Alcántara-Ortigoza, Sandra Ramos, Roberto Cruz-Alcívar, Paola Moyers-Pérez
Hypochondroplasia (HCH) is a skeletal dysplasia caused by an abnormal function of the fibroblast growth factor receptor 3. Although believed to be relatively common, its prevalence and phenotype are not well established owing to its clinical, radiological, and genetic heterogeneity. Here we report on a molecularly proven HCH family with an affected father and two children. The siblings (male and female) with HCH also had craniosynostosis and cleft palate, respectively. The present report supports the conclusion that the full clinical spectrum of HCH is not completely delineated...
November 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29080836/identification-of-a-novel-mutation-in-the-fgfr3-gene-in-a-chinese-family-with-hypochondroplasia
#2
Jing Chen, Jiangfei Yang, Suzhou Zhao, Hui Ying, Guimei Li, Chao Xu
BACKGROUND: Hypochondroplasia (HCH; OMIM 146000) is a common autosomal dominant skeletal dysplasia characterized by disproportionate short stature, short extremities, relative macrocephaly, and lumbar lordosis. Because of its clinical and genetic heterogeneity, gene mutational analysis is particularly important in diagnosis and the phenotypes may be ameliorated if diagnosed early. MATERIALS AND METHODS: In this study, we examined a Chinese family with HCH, performed an inductive analysis of their clinical features and radiographic results, and applied targeted exome sequencing (TES) technology to perform a molecular diagnosis...
October 25, 2017: Gene
https://www.readbyqxmd.com/read/29068064/familial-acanthosis-nigricans-with-p-k650t-fgfr3-mutation
#3
Kensuke Fukuchi, Kazuki Tatsuno, Kayo Matsushita, Akiharu Kubo, Taisuke Ito, Yoshiki Tokura
Acanthosis nigricans (AN) is a pigmentary skin disorder, which may present in association with clinical disorders such as obesity and malignancy. Occasionally, this unique skin manifestation is seen in alliance with several skeletal disorders, such Crouzon syndrome, achondroplasia and hypochondroplasia (HCH). These orthopedic disorders are known to have genetic changes in FGFR3. Recently, AN was reported in HCH with p.K650T mutation in FGFR3, and to date, there are only three reports, comprising 18 cases, describing AN harboring this specific gene mutation...
October 25, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/29026271/acanthosis-nigricans-in-a-japanese-boy-with-hypochondroplasia-due-to-a-k650t-mutation-in-fgfr3
#4
Hiroki Hirai, Junpei Hamada, Kosei Hasegawa, Eiichi Ishii
Acanthosis nigricans (AN) is observed in some cases of skeletal dysplasia. However, AN has occasionally been reported in patients with hypochondroplasia (HCH), and a clinical diagnosis is sometimes difficult when its physical and radiological features are mild. Mutations in the gene encoding the fibroblast growth factor receptor 3 (FGFR3) have been identified as the cause of some types of skeletal dysplasia, which is diagnostically useful. Here, we report the case of a 3-yr-old Japanese boy who presented with AN...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29019756/imaging-of-skeletal-disorders-caused-by-fibroblast-growth-factor-receptor-gene-mutations
#5
Kiran M Sargar, Achint K Singh, Simon C Kao
Fibroblast growth factors and fibroblast growth factor receptors (FGFRs) play important roles in human axial and craniofacial skeletal development. FGFR1, FGFR2, and FGFR3 are crucial for both chondrogenesis and osteogenesis. Mutations in the genes encoding FGFRs, types 1-3, are responsible for various skeletal dysplasias and craniosynostosis syndromes. Many of these disorders are relatively common in the pediatric population, and diagnosis is often challenging. These skeletal disorders can be classified based on which FGFR is affected...
October 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28763161/monoallelic-fgfr3-and-biallelic-alpl-mutations-in-a-thai-girl-with-hypochondroplasia-and-hypophosphatasia
#6
Thantrira Porntaveetus, Chalurmpon Srichomthong, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Skeletal dysplasias are a complex group of more than 350 disorders with phenotypic and genotypic heterogeneity affecting bone and cartilage growth. We studied a 2-year-old girl and her 21-year-old mother with disproportionate short stature. In addition to typical features of hypochondroplasia found in both patients, the child had deformities of the extremity bones, metaphyseal flares, and bilateral transverse (Bowdler) fibular spurs with overlying skin dimples detected at birth. Intravenous pamidronate was started in the child since the age of 17 days, and then every two months...
October 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28679403/identification-and-in-silico-characterization-of-p-g380r-substitution-in-fgfr3-associated-with-achondroplasia-in-a-non-consanguineous-pakistani-family
#7
Muhammad Ajmal, Asif Mir, Muhammad Shoaib, Salman Akbar Malik, Muhammad Nasir
BACKGROUND: The dimerization efficiency of FGFR3 transmembrane domain plays a critical role in the formation of a normal skeleton through the negative regulation of bone development. Recently, gain-of-function mutations in the transmembrane domain of FGFR3 has been described associated with an aberrant negative regulation, leading to the development of achondroplasia-group disorders, including achondroplasia (ACH), hypochondroplasia (HCH) and thanatophoric dysplasia (TD). Here, we describe a non-consanguineous Pakistani family with achondroplasia to explain hereditary basis of the disease...
July 5, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/28504488/argentine-references-for-the-assessment-of-body-proportions-from-birth-to-17-years-of-age
#8
Mariana Del Pino, Alicia B Orden, María A Arenas, Virginia Fano
INTRODUCTION: Abnormal body proportions may indicate skeletal disorders; therefore, their detection has great clinical significance. OBJETIVES: To estimate centiles for head circumference/height (HC/H) and sitting height/height (SH/H) ratios, and assess their diagnostic usefulness among a group of children with skeletal dysplasia. METHODS: Centiles 3, 10, 25, 50, 75, 90 and 97 for HC/H and SH/H ratios were estimated with the LMS method using Box-Cox transformation to normalize data distribution for each age...
June 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28181399/mild-achondroplasia-hypochondroplasia-with-acanthosis-nigricans-normal-development-and-a-p-ser348cys-fgfr3-mutation
#9
Natario L Couser, Chetna K Pande, Christie M Turcott, Elaine B Spector, Arthur S Aylsworth, Cynthia M Powell
Pathogenic allelic variants in the fibroblast growth factor receptor 3 (FGFR3) gene have been associated with a number of phenotypes including achondroplasia, hypochondroplasia, thanatophoric dysplasia, Crouzon syndrome with acanthosis nigricans (Crouzonodermoskeletal syndrome), and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans). Crouzon syndrome with acanthosis nigricans is caused by the pathogenic variant c.1172C>A (p.Ala391Glu) in the FGFR3 gene. The p.Lys650Thr pathogenic variant in FGFR3 has been linked to acanthosis nigricans without significant craniofacial or skeletal abnormalities...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27987249/achondroplasia-development-pathogenesis-and-therapy
#10
REVIEW
David M Ornitz, Laurence Legeai-Mallet
Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia (Ach), the most common form of dwarfism in humans, and related chondrodysplasia syndromes that include hypochondroplasia (Hch), severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN), and thanatophoric dysplasia (TD). FGFR3 is expressed in chondrocytes and mature osteoblasts where it functions to regulate bone growth. Analysis of the mutations in FGFR3 revealed increased signaling through a combination of mechanisms that include stabilization of the receptor, enhanced dimerization, and enhanced tyrosine kinase activity...
April 2017: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/27507911/a-japanese-familial-case-of-hypochondroplasia-with-a-novel-mutation-in-fgfr3
#11
Keiko Nagahara, Yuki Harada, Tohru Futami, Masaki Takagi, Gen Nishimura, Yukihiro Hasegawa
No abstract text is available yet for this article.
July 2016: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/27485793/epileptic-phenotype-of-fgfr3-related-bilateral-medial-temporal-lobe-dysgenesis
#12
Tetsuya Okazaki, Yoshiaki Saito, Riyo Ueda, Takeya Awashima, Yoko Nishimura, Isao Yuasa, Yuki Shinohara, Kaori Adachi, Masayuki Sasaki, Eiji Nanba, Yoshihiro Maegaki
Hypochondroplasia (HCH) is a skeletal dysplasia, characterized by short stature and macrocephaly. Clinical symptoms and radiological and histopathological features of HCH are similar, but milder than those seen in achondroplasia. Particularly, HCH patients with Asn540Lys mutation in the FGFR3 gene are reported to have medial temporal lobe dysgenesis and epilepsy. We report a 3-year-old girl who developed recurrent epileptic apnea, which started immediately after birth. The apneic seizures were refractory to antiepileptic medications; ictal electroencephalography showed rhythmic activity originating from the left or right temporal areas and rarely from the right frontal area...
January 2017: Brain & Development
https://www.readbyqxmd.com/read/26867606/criteria-for-radiologic-diagnosis-of-hypochondroplasia-in-neonates
#13
Tomoko Saito, Keisuke Nagasaki, Gen Nishimura, Masaki Wada, Hiromi Nyuzuki, Masaki Takagi, Tomonobu Hasegawa, Naoko Amano, Jun Murotsuki, Hideaki Sawai, Takahiro Yamada, Shuhei Sato, Akihiko Saitoh
BACKGROUND: A radiologic diagnosis of hypochondroplasia is hampered by the absence of age-dependent radiologic criteria, particularly in the neonatal period. OBJECTIVE: To establish radiologic criteria and scoring system for identifying neonates with fibroblast growth factor receptor 3 (FGFR3)-associated hypochondroplasia. MATERIALS AND METHODS: This retrospective study included 7 hypochondroplastic neonates and 30 controls. All subjects underwent radiologic examination within 28 days after birth...
April 2016: Pediatric Radiology
https://www.readbyqxmd.com/read/26814021/serum-nt-procnp-levels-increased-after-initiation-of-gh-treatment-in-patients-with-achondroplasia-hypochondroplasia
#14
Takuo Kubota, Wei Wang, Kohji Miura, Hirofumi Nakayama, Keiko Yamamoto, Makoto Fujiwara, Yasuhisa Ohata, Makiko Tachibana, Taichi Kitaoka, Satoshi Takakuwa, Yoko Miyoshi, Noriyuki Namba, Keiichi Ozono
OBJECTIVE: Serum amino-terminal propeptide of C-type natriuretic peptide (NT-proCNP) levels have been proposed as a biomarker of linear growth in healthy children. The usefulness of NT-proCNP in patients with achondroplasia (ACH)/hypochondroplasia (HCH) remains to be elucidated. The objective was to study whether serum NT-proCNP level is a good biomarker for growth in ACH/HCH and other patients of short stature. DESIGN: This was a longitudinal cohort study. PATIENTS: Sixteen children with ACH (aged 0·4-4·3 years), six children with HCH (2·7-6·3 years), 23 children with idiopathic short stature (ISS) (2·2-9·0 years), eight short children with GH deficiency (GHD) (2·9-6·8 years) and five short children born small for gestational age (SGA) (2·0-6·6 years)...
June 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/26716907/low-bone-mineral-density-in-achondroplasia-and-hypochondroplasia
#15
Masaki Matsushita, Hiroshi Kitoh, Kenichi Mishima, Izumi Kadono, Hiroshi Sugiura, Sachi Hasegawa, Yoshihiro Nishida, Naoki Ishiguro
BACKGROUND: Achondroplasia (ACH) and hypochondroplasia (HCH) are the most common form of short-limb skeletal dysplasias caused by activated fibroblast growth factor receptor 3 (FGFR3) signaling. Although decreased bone mass was reported in gain-of-function mutation in Fgfr3 mice, both disorders have never been described as osteoporotic. In the present study, we evaluated bone mineral density (BMD) in ACH and HCH patients. METHODS: We measured spinal BMD (L1-L4) in 18 ACH and four HCH patients with an average age of 19...
August 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/26587643/prenatal-diagnosis-of-single-gene-disorders-using-amniotic-fluid-as-the-starting-material-for-pcr
#16
Huan Huang, Shuo Li, Shuolian Lu, Hongshan Ge, Lizhou Sun
A rapid and inexpensive method for fetal genetic diagnosis using amniotic fluid (AF) as the starting material was demonstrated in this study. Raw AF was added directly to polymerase chain reaction (PCR) mixtures with HpH buffer (a high pH buffer), without any pre-treatment. Amplified products were detected by gel electrophoresis and then subjected to Sanger sequencing. The AF from four fetuses, each expressing a single gene disorder (achondroplasia, hypochondroplasia, thanatophoric dysplasia, or X-linked hypohidrotic ectodermal dysplasia), were analyzed...
January 7, 2016: Analyst
https://www.readbyqxmd.com/read/26555758/height-outcome-of-short-children-with-hypochondroplasia-after-recombinant-human-growth-hormone-treatment-a-meta-analysis
#17
Francesco Massart, Mario Miccoli, Angelo Baggiani, Silvano Bertelloni
Hypochondroplasia (HCH) is a genetic skeletal dysplasia, characterized by rhizomelic short height (Ht) with facial dysmorphology and lumbar hyperlordosis. Albeit there are concerns that HCH children may not achieve optimal long-term outcome in response to recombinant human growth hormone (rhGH), anecdotal experiences suggested at least short-term Ht improvement. After thorough search of published studies, meta-analysis of rhGH use in HCH children was performed. In 113 HCH children, rhGH administration (median 0...
November 2015: Pharmacogenomics
https://www.readbyqxmd.com/read/26488291/paleopathological-study-of-dwarfism-related-skeletal-dysplasia-in-a-late-joseon-dynasty-south-korean-population
#18
Eun Jin Woo, Won-Joon Lee, Kyung-Seok Hu, Jae Joon Hwang
Skeletal dysplasias related to genetic etiologies have rarely been reported for past populations. This report presents the skeletal characteristics of an individual with dwarfism-related skeletal dysplasia from South Korea. To assess abnormal deformities, morphological features, metric data, and computed tomography scans are analyzed. Differential diagnoses include achondroplasia or hypochondroplasia, chondrodysplasia, multiple epiphyseal dysplasia, thalassemia-related hemolytic anemia, and lysosomal storage disease...
2015: PloS One
https://www.readbyqxmd.com/read/26350084/improvement-of-molecular-genetic-diagnostics-of-the-most-common-skeletal-dysplasias
#19
L Kotysova, S Mattosova, J Chandoga
UNLABELLED: achondroplasia (ACH) and hypochondroplasia (HCH) into the routine practice. BACKGROUND: Both disorders are usually caused by de novo gain-of-function type mutations in FGFR3 gene encoding the fibroblast growth factor receptor 3, which plays an important role in the metabolism of connective tissues. More than 99% of ACH cases are caused by the glycine-to-arginine substitution at codon 380 and about 70% of HCH cases result from the asparagine-to-lysine/-serine/-threonine substitutions at codon 540 in the consequence of the four different possible nucleotide changes occurred at the same codon...
2015: Bratislavské Lekárske Listy
https://www.readbyqxmd.com/read/25777271/a-novel-variant-of-fgfr3-causes-proportionate-short-stature
#20
Sarina G Kant, Iveta Cervenkova, Lukas Balek, Lukas Trantirek, Gijs W E Santen, Martine C de Vries, Hermine A van Duyvenvoorde, Michiel J R van der Wielen, Annemieke J M H Verkerk, André G Uitterlinden, Sabine E Hannema, Jan M Wit, Wilma Oostdijk, Pavel Krejci, Monique Losekoot
OBJECTIVE: Mutations of the fibroblast growth factor receptor 3 (FGFR3) cause various forms of short stature, of which the least severe phenotype is hypochondroplasia, mainly characterized by disproportionate short stature. Testing for an FGFR3 mutation is currently not part of routine diagnostic testing in children with short stature without disproportion. DESIGN: A three-generation family A with dominantly transmitted proportionate short stature was studied by whole-exome sequencing to identify the causal gene mutation...
June 2015: European Journal of Endocrinology
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