Results 1 to 10 of about 2,527 (125)

European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis [PDF]

Orphanet Journal of Rare Diseases, 2023
Foramen magnum stenosis is a serious, and potentially life-threatening complication of achondroplasia. The foramen magnum is smaller in infants with achondroplasia, compared with the general population, and both restricted growth in the first 2 years and
Melita Irving, Genevieve Baujat, Moeenaldeen Alsayed   +2 more
exaly   +7 more sources

Foramen magnum stenosis, cervicomedullary decompression, and growth in children with achondroplasia: a retrospective cohort study [PDF]

Orphanet Journal of Rare Diseases
Background Foramen magnum stenosis (FMS) is a serious complication in children with achondroplasia that may necessitate cervicomedullary decompression (CMD). It is unclear how FMS and CMD influence growth in these children. This study aimed to assess the
Daniela Fava, Alessia Angelelli, Caterina Tedesco, Marta Panciroli, Silvia Bianchin, Daniela Teruzzi, Alessandra Scaravilli, Angelica Pisati, Isabella Barranca, Mariagrazia Scilipoti, Mariasavina Severino, Flavia Napoli, Nadia Gabriella Maiorano, Alessandro Naim, Sofia Negri, Giuseppa Patti, Angela Pistorio, Natascia Di Iorgi, Anna Elsa Maria Allegri, Mohamad Maghnie, The Skeletal Dysplasia Multidisciplinary Team (GM-MOC)   +20 more
doaj   +5 more sources

Foramen magnum stenosis and midface hypoplasia in C-type natriuretic peptide-deficient rats and restoration by the administration of human C-type natriuretic peptide with 53 amino acids. [PDF]

PLoS ONE, 2019
C-type natriuretic peptide (CNP)-knockout (KO) rats exhibit impaired skeletal growth, with long bones shorter than those in wild-type (WT) rats. This study compared craniofacial morphology in the CNP-KO rat with that in the Spontaneous Dwarf Rat (SDR), a
Takafumi Yotsumoto, Naomi Morozumi, Mayumi Furuya, Toshihito Fujii, Keisho Hirota, Yohei Ueda, Kazumasa Nakao, Shigeki Yamanaka, Kazunori Yoshikiyo, Sayaka Yoshida, Tomonari Nishimura, Yasuyuki Abe, Toshimasa Jindo, Hiroyuki Ogasawara, Akihiro Yasoda   +14 more
doaj   +4 more sources

Intraoperative Computed Tomography for Cervicomedullary Decompression of Foramen Magnum Stenosis in Achondroplasia: Two Case Reports [PDF]

Neurologia Medico-Chirurgica, 2013
The authors report two cases of cervicomedullary decompression of foramen magnum (FM) stenosis in children with achondroplasia using intraoperative computed tomography (iCT). A 14-month-old girl with myelopathy and retarded motor development, and a 10-year-old girl who had already undergone incomplete FM decompression was presented with myelopathy ...
Toshiaki Kodera
exaly   +5 more sources

The analysis of a sudden death caused by the unusual shape of the foramen magnum stenosis [PDF]

Vojnosanitetski Pregled, 2021
Introduction. The anomalies of the size and shape of the foramen magnum (FM), followed by its stenosis, take a special place in clinical and forensic practice.
Vuković Miloš, Vuković Jelena, Maletin Miloš, Vuković Radenko   +3 more
doaj   +3 more sources

SIADH as a Rare Complication of Foramen Magnum Stenosis in an Infant With Achondroplasia. [PDF]

JCEM Case Rep
Abstract Achondroplasia is the most common skeletal dysplasia and is associated with serious complications such as foramen magnum stenosis (FMS). This case report describes an infant with achondroplasia who presented with a syndrome of inappropriate antidiuretic hormone secretion (SIADH), secondary to significant FMS and myelocompression.
Cebeci AN, Hebert S, Reutter H, Rompel O, Woelfle J.   +4 more
europepmc   +4 more sources

Sleep-Disordered Breathing in an Infant With Achondroplasia and Foramen Magnum Stenosis. [PDF]

Cureus
Sleep-disordered breathing (SDB) is a frequently recognized comorbidity in infants and children with achondroplasia due to alterations in craniofacial and upper airway anatomy. Foramen magnum stenosis and cervicomedullary compression can be associated with SDB in this population, requiring prompt evaluation by multidisciplinary teams.
Feller C, Senthilvel E.
europepmc   +3 more sources

Foramen magnum stenosis in a 5-month-old boy with achondroplasia. [PDF]

CMAJ, 2022
Malhotra AK, Parker W, Dirks PB.
europepmc   +3 more sources

Phase‐Contrast Magnetic Resonance Imaging Identifies Low Cerebrospinal Fluid Velocity at the Foramen Magnum in Small Breed Dogs With an Enlarged Ventricular System [PDF]

Journal of Veterinary Internal Medicine
Background In small breed dogs, enlarged ventricles of the brain are a common finding on magnetic resonance imaging (MRI). In humans, enlarged lateral ventricles are usually the consequence of mesencephalic aqueduct stenosis.
Sarah Hubler, Christina Precht, Gertraud Schüpbach‐Regula, Veronika M. Stein, Daniela Schweizer   +4 more
doaj   +2 more sources

Achondroplasia treatments in children aged 5 and older [PDF]

Molecular and Cellular Pediatrics
Achondroplasia, the most prevalent skeletal dysplasia, is a genetic disorder caused by activating mutations in the FGFR3 gene impairing endochondral ossification of long bones.
Emmanuelle Zakheim, Sonal Sachdeva, Daniel Moon, Miguel Nicole Ortiz, Nishant Mistry, Floyd Culler   +5 more
doaj   +2 more sources