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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...
August 1, 2017: American Journal of Medical Genetics. Part A
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
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
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...
February 9, 2017: American Journal of Medical Genetics. Part A
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
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
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
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
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
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
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
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
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
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
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
Yuan Xue, Angela Sun, P Betty Mekikian, Jorge Martin, David L Rimoin, Ralph S Lachman, William R Wilcox
Fibroblast growth factor receptor 3 (FGFR3) is the only gene known to cause achondroplasia (ACH), hypochondroplasia (HCH), and thanatophoric dysplasia types I and II (TD I and TD II). A second, as yet unidentified, gene also causes HCH. In this study, we used sequencing analysis to determine the frequency of FGFR3 mutations for each phenotype in 324 cases from the International Skeletal Dysplasia Registry (ISDR). Our data suggest that there is a considerable overlap of genotype and phenotype between ACH and HCH...
November 2014: Molecular Genetics & Genomic Medicine
Molly O Regelmann, Robert Rapaport
No abstract text is available yet for this article.
2014: Hormone Research in Pædiatrics
Manal Mustafa, Nabil Moghrabi, Bassam Bin-Abbas
FGFR3 mutations cause wide spectrum of disorders ranging from skeletal dysplasias (hypochondroplasia, achondroplasia, and thanatophoric dysplasia), benign skin tumors (epidermal nevi, seborrhaeic keratosis, and acanthosis nigricans), and epithelial malignancies (multiple myeloma and prostate and bladder carcinoma). Hypochondroplasia is the most common type of short-limb dwarfism in children resulting from fibroblast growth factor receptor 3 (FGFR3) mutation. Acanthosis nigricans might be seen in severe skeletal dysplasia, including thanatophoric dysplasia and SADDAN syndrome, without a biochemical evidence of hyperinsulinemia...
2014: Case Reports in Endocrinology
Thatiane Yoshie Kanazawa, Luciana Cardoso Bonadia, Denise Pontes Cavalcanti
Mutations in the FGFR3 gene cause the phenotypic spectrum of FGFR3 chondrodysplasias ranging from lethal forms to the milder phenotype seen in hypochondroplasia (Hch). The p.N540K mutation in the FGFR3 gene occurs in ∼70% of individuals with Hch, and nearly 30% of individuals with the Hch phenotype have no mutations in the FGFR3, which suggests genetic heterogeneity. The identification of a severe case of Hch associated with the typical mutation c.1620C > A and the occurrence of a c.1150T > C change that resulted in a p...
October 2014: Genetics and Molecular Biology
Graziella Pinto, Valérie Cormier-Daire, Martine Le Merrer, Dinane Samara-Boustani, Geneviève Baujat, Laurence Fresneau, Magali Viaud, Jean Claude Souberbielle, Jean Claude Pineau, Michel Polak
BACKGROUND/AIMS: Hypochondroplasia (HCH) is a skeletal dysplasia characterized by disproportionate short stature. The aims of the study are to evaluate efficacy and safety of recombinant human growth hormone (r-hGH) therapy in HCH children, when compared with a historical cohort of untreated HCH children. METHODS: Nineteen HCH patients with an initial height standard deviation score (SDS) ≤-2 and a mean age of 9.3 ± 3.1 years were treated with a mean r-hGH dose of 0...
2014: Hormone Research in Pædiatrics
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