Read by QxMD icon Read

dysplasia skeletical

Izabela Łaczmańska, Justyna Kuliczkowska-Płaksej, Agnieszka Stembalska
Short stature, which is defined as height below 2 standard deviations of the mean height for the age and sex, is one of the most frequent reasons for medical consultations in children. Short stature may occur due to a constitutional delay in growth, familial short stature or chronic diseases, including many genetic syndromes, metabolic and endocrine disorders. In this article the authors provide a mini-review of the most frequent genetic syndromes associated with short stature that should be taken into account in the differential diagnosis process...
March 14, 2018: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
Aiko Machiya, Sho Tsukamoto, Satoshi Ohte, Mai Kuratani, Mai Fujimoto, Keigo Kumagai, Kenji Osawa, Naoto Suda, Alex N Bullock, Takenobu Katagiri
Various substitution mutations in ALK2, a transmembrane serine/threonine kinase receptor for bone morphogenetic proteins (BMPs), have been identified in patients with genetic disorders such as fibrodysplasia ossificans progressiva (FOP), diffuse intrinsic pontine glioma (DIPG) and heart defects. In this study, we characterized the ALK2 mutants R258G, G328V and F246Y, which were identified in patients with severe FOP, DIPG and unusual hereditary skeletal dysplasia, respectively. Both R258G and G328V were gain-of-function mutations, but F246Y was equivalent to wild-type ALK2...
March 15, 2018: Bone
Emanuel Rivera-Rosado, David Beaton-Comulada, Eric Hernandez-Ortiz, Pablo V Marrero-Ortiz
Fibrous dysplasia is a benign developmental disorder of bone in which fibrous connective tissue containing abnormal bone with irregular trabeculae replaces normal cancellous bone. It may affect 1 (monostotic) or multiple bones (polyostotic). Polyostotic disease is the less common of the 2, occurring in only 20 to 25% of fibrous dysplasia patients and tending to affect those who are younger than 10 years of age; patients having this form tend to experience bone enlargement beyond normal skeletal maturation, which can cause pain, progressive damage, and increased risk of pathological fracture...
March 2018: Puerto Rico Health Sciences Journal
Daisuke Higeta, Rie Yamaguchi, Takeshi Takagi, Gen Nishimura, Kiyoko Sameshima, Kayoko Saito, Takashi Minegishi
Campomelic dysplasia is an autosomal dominant skeletal dysplasia caused by heterozygous SOX9 mutations. Most patients are sporadic due to a de novo mutation. Familial campomelic dysplasia is very rare. We report on a familial campomelic dysplasia caused by maternal germinal mosaicism. Two siblings showed the classic campomelic dysplasia phenotype with a novel SOX9 mutation (NM_000346.3: c.441delC, p.(Asn147Lysfs*36)). Radiological examination of the mother showed mild skeletal changes. Then, her somatic mosaicism of the mutation was ascertained...
March 14, 2018: Congenital Anomalies
Karen L Posey, Francoise Coustry, Jacqueline T Hecht
Cartilage oligomeric matrix protein (COMP) is a large pentameric glycoprotein that interacts with multiple extracellular matrix proteins in cartilage and other tissues. While, COMP is known to play a role in collagen secretion and fibrillogenesis, chondrocyte proliferation and mechanical strength of tendons, the complete range of COMP functions remains to be defined. COMPopathies describe pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED), two skeletal dysplasias caused by autosomal dominant COMP mutations...
March 9, 2018: Matrix Biology: Journal of the International Society for Matrix Biology
Teresa Victoria, Xiaowei Zhu, Ralph Lachman, Monica Epelman, Edward R Oliver, N Scott Adzick, David M Biko
OBJECTIVE: The purpose of this article is to discuss advances in imaging and diagnosis of skeletal dysplasias. CONCLUSION: Skeletal dysplasias are a heterogeneous group of disorders affecting bone and cartilage and characterized by abnormal shape, growth, and integrity of the skeleton. These disorders may be inherited in a multitude of genetic patterns-autosomal dominant, autosomal recessive, somatic mosaic, imprinting errors of metabolism, X-linked, and teratogenic exposure...
March 12, 2018: AJR. American Journal of Roentgenology
Shuaa Basalom, Yannis Trakadis, Roberta Shear, Michel E Azouz, Isabelle De Bie
BACKGROUND: Dyssegmental dysplasia Silverman-Handmaker (DDSH; MIM 224410) type is an extremely rare skeletal dysplasia caused by functional null mutations in the perlecan gene. Less than forty cases are reported in the literature, of which only four were prenatally detected. METHODS: We report on a dizygotic twin pregnancy from consanguineous parents for which one of the twins presented prenatally with severe micromelia, limb bowing and scoliosis, and postnatally with clinical and radiological features compatible with a diagnosis of dyssegmental dysplasia...
March 11, 2018: Molecular Genetics & Genomic Medicine
Shital N Parikh, Neil Rajdev, Qin Sun
BACKGROUND: Femoral trochlear dysplasia is a known risk factor for patellar instability. The growth pattern of the normal trochlea is known, but there have been no studies investigating the growth and development of the dysplastic trochlea. The purpose of this study was to assess the growth pattern of trochlear dysplasia in adolescents. METHODS: In a retrospective analysis, magnetic resonance images of adolescents with patellar instability and trochlear dysplasia were evaluated...
March 8, 2018: Journal of Pediatric Orthopedics
Toshimi Michigami
Congenital skeletal dysplasias have been considered to be fundamentally untreatable diseases. However, molecular diagnosis by genetic testing has become more prevalent, and efforts are being made to develop novel therapies based on the pathogenesis. As treatments for osteogenesis imperfecta, in addition to anti-resorptive agents, neutralizing antibodies against sclerostin and transforming growth factor(TGF)-β and chemical chaperones can be beneficial. Enzyme replacement therapy using bone-targeting recombinant alkaline phosphatase has been recently developed to treat hypophosphatasia and has much improved the prognosis of the patients affected with severe forms of the disease...
2018: Clinical Calcium
Peter J Simm, Andrew Biggin, Margaret R Zacharin, Christine P Rodda, Elaine Tham, Aris Siafarikas, Craig Jefferies, Paul L Hofman, Diane E Jensen, Helen Woodhead, Justin Brown, Benjamin J Wheeler, Denise Brookes, Antony Lafferty, Craig F Munns
Bisphosphonate therapy is the mainstay of pharmacological intervention in young people with skeletal fragility. The evidence of its use in a variety of conditions remains limited despite over three decades of clinical experience. On behalf of the Australasian Paediatric Endocrine Group, this evidence-based consensus guideline presents recommendations and discusses the graded evidence (using the GRADE system) for these recommendations. Primary bone fragility disorders such as osteogenesis imperfecta are considered separately from osteoporosis secondary to other clinical conditions (such as cerebral palsy, Duchenne muscular dystrophy)...
March 2018: Journal of Paediatrics and Child Health
Xiao Zhu, Kelly N Evans, Areeg El-Gharbawy, Jonathan Y Lee, Jack E Brooker, Noel Jabbour, Elizabeth C Tyler-Kabara, Suneeta Madan-Khertarpal, Joseph E Losee, Jesse A Goldstein
Pierre Robin Sequence (PRS) can be associated with skeletal dysplasias, presenting with craniocervical instability and devastating spinal injury if unrecognized. The authors present the case of an infant with PRS and a type II collagenopathy who underwent multiple airway-securing procedures requiring spinal manipulation before craniocervical instability was identified. This resulted in severe cervical cord compression due to odontoid fracture and occipitoatlantoaxial instability. This case highlights the importance of early cervical spine imaging and cautious manipulation in infants with PRS and suspected skeletal dysplasia...
January 1, 2018: Cleft Palate-craniofacial Journal
H Ostertag, S Glombitza
Fibrous dysplasia of bone is a connatal but not hereditary disease with monostotic or polyostotic manifestations and may be associated either with the extraskeletal disease McCune-Albright syndrome or with myxoma of the skeletal muscle, termed Mazabraud syndrome.The confirmation of recurrent chromosomal aberrations may lead to the conclusion that fibrous dysplasia is a neoplasia rather than a dysplastic skeletal disease.The primary cause of all forms of the described diseases is the activating GNAS mutation, which is detectable in almost all lesions...
February 27, 2018: Der Pathologe
Georgi Tchernev, Anastasiya Atanasova Chokoeva, Uwe Wollina, Torello Lotti, Georgi Konstantinov Maximov, Ilia Lozev
BACKGROUND: Neurofibromatosis type 1 ( NF1 ) is a multisystemic disorder with genetic background, characterised by specific cutaneous findings, skeletal dysplasias, and growth of both benign and malignant nervous system tumours. NF1 is caused by mutations in the NF1 gene, situated in chromosome 17q11.2, with an autosomal dominant pattern of inheritance and clinical manifestation of neurofibromas, malignant peripheral nerve sheath tumour, optic and non-optic nerve gliomas, congenital heart disease, cardiovascular and cerebrovascular disease and orthopaedic disorders...
January 25, 2018: Open Access Macedonian Journal of Medical Sciences
Sughra Wahid, Saqib Aslam, Sadaf Minhas
Ellis-van Creveld syndrome is a rare form of skeletal and chondroectodermal dysplasia which affects all the three ectodermal, mesodermal, and endodermal derivatives. It has an autosomal recessive inheritance. This is caused by mutations in 1 of 2 genes, EVC 1 or EVC 2. This syndrome has a constellation of characteristic features that include bilateral post-axial polydactyly, mainly involving the upper limbs, hypoplastic nails and teeth, congenital heart defects, and chondroectodermal dysplasia. It is mainly a disorder of Amish population where incidence of this disease is 1/5000 and its incidence in non-Amish population is 7/1000000...
March 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
Kyoko Nagao, Thierry Morlet, Elizabeth Haley, Jennifer Padilla, Julianne Nemith, Robert W Mason, Shunji Tomatsu
BACKGROUND: Hearing impairment is a common problem in patients with mucopolysaccharidosis IV (MPS IV) throughout their life. Many of the adult patients with MPS IV exhibit permanent or severe hearing loss. However, there has been no systematic review of detailed audiological test results in MPS IV. MATERIALS AND METHODS: Fourteen individuals with MPS IV (13 MPS IVA and 1 MPS IVB; aged between 12 and 38 years old) participated in the current study. We obtained auditory neurophysiological responses (auditory brainstem responses and otoacoustic emissions test) in addition to pure-tone audiometry and middle ear function tests (tympanometry and acoustic reflexes)...
February 8, 2018: Molecular Genetics and Metabolism
Jiao Liang, Jun Li, Yanxia Fu, Fangli Ren, Jiake Xu, Mengyu Zhou, Peiyu Li, Haotian Feng, Yinyin Wang
GdX, also named ubiquitin-like protein 4A, is a ubiquitin-domain protein characterized by a ubiquitin-like domain that regulates the movement of misfolded proteins from the endoplasmic reticulum membrane to proteasome. However, its function in skeletal biology remains unclear. Here, we report that GdX plays a crucial role in skeletal development as mice lacking GdX exhibit skeletal dysplasias, mild kyphosis, and scoliosis. During embryonic stage, GdX knockout mice display decreased bone mineral density and trabecular bone accompanied by delayed osteogenic formation...
February 20, 2018: Cell Biochemistry and Function
Lucía Sentchordi-Montané, Miriam Aza-Carmona, Sara Benito-Sanz, Ana C Barreda-Bonis, Consuelo Sánchez-Garre, Pablo Prieto-Matos, Pablo Ruiz-Ocaña, Alfonso Lechuga-Sancho, Atilano Carcavilla-Urquí, Inés Mulero-Collantes, Gabriel A Martos-Moreno, Angela Del Pozo, Elena Vallespín, Amaka Offiah, Manuel Parrón-Pajares, I Dinis, Sergio B Sousa, Purificación Ros-Pérez, Isabel González-Casado, Karen E Heath
OBJECTIVE: Mutations in the aggrecan gene (ACAN) have been identified in two autosomal dominant skeletal dysplasias, Spondyloepiphyseal dysplasia, Kimberley type (SEDK) and osteochondritis dissecans, as well as in a severe recessive dysplasia, Spondyloepimetaphyseal dysplasia, aggrecan type. Next generation sequencing (NGS) has aided the identification of heterozygous ACAN mutations in individuals with short stature, minor skeletal defects and mild facial dysmorphisms, some of whom have advanced bone age (BA), poor pubertal spurt and early growth cessation as well as precocious osteoarthritis...
February 21, 2018: Clinical Endocrinology
Chih-Ping Chen, Tsang-Ming Ko, Tung-Yao Chang, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Wayseen Wang
OBJECTIVE: We present the perinatal imaging findings and molecular genetic analysis in a fetus with short-rib polydactyly syndrome (SRPS) type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3). CASE REPORT: A 29-year-old, primigravid woman was referred for genetic counseling at 15 weeks of gestation because of abnormal ultrasound findings of short limbs, a narrow chest and bilateral polydactyly of the hands and feet, consistent with a diagnosis of SRPS type III...
February 2018: Taiwanese Journal of Obstetrics & Gynecology
Yumiko Nishio, Teruyuki Hiraki, Hiroko Taniguchi, Kazuo Ushijima
Background: Cleidocranial dysplasia is a type of skeletal dysplasia, which is primarily characterized by delayed ossification of skeletal structures. It causes facial and oral abnormalities, resulting in difficult airway management and neuraxial anesthesia. Case presentation: The patient was a 24-year-old primipara (height 138 cm, weight 42 kg) with a hypoplastic right clavicle, patent fontanelles, dental malalignment, and a high palate. She was diagnosed with cleidocranial dysplasia at birth, although gene examination has not been performed...
2018: JA Clin Rep
Barbara Vona, Reza Maroofian, Geetu Mendiratta, Matthew Croken, Siwu Peng, Xiaoqian Ye, Jamileh Rezazadeh, Paulina Bahena, Caroline Lekszas, Thomas Haaf, Lisa Edelmann, Lisong Shi
Multilocus analysis of rare or genetically heterogeneous diseases is a distinct advantage of next-generation sequencing (NGS) over conventional single-gene investigations. Recent studies have begun to uncover an under-recognized prevalence of dual molecular diagnoses in patients with a "blended" phenotype that is the result of 2 clinical diagnoses involving 2 separate genetic loci. This blended phenotype could be mistakenly interpreted as a novel clinical extension of a single-gene disorder. In this study, we ascertained a proband from a large consanguineous Iranian family who manifests postlingual, progressive, moderate hearing loss in addition to suspected Ellis-van Creveld syndrome phenotype...
December 2017: Molecular Syndromology
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"