The radiologic diagnosis of skeletal dysplasias: past, present and future. [PDF]
Pediatr Radiol, 2020 Skeletal dysplasias have been recognised since recorded history began. The advent of radiography at the beginning of the 20th century and the subsequent introduction of departments of radiology have had tremendous impact and allowed conditions to be ...
Offiah AC, Hall CM.
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SIADH as a Rare Complication of Foramen Magnum Stenosis in an Infant With Achondroplasia. [PDF]
JCEM Case RepAchondroplasia 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 ...
Cebeci AN +4 more
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Prenatal diagnosis of achondroplasia in primary care settings - Recognising the soft markers: A case report. [PDF]
Malays Fam PhysicianAchondroplasia, a genetic disorder causing limb shortening, is the most common form of disproportionate dwarfism. It can be diagnosed prenatally through sonographic findings and postnatally through clinical and radiological findings.
Wan Fadzleen Ezyani MF +3 more
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The clinical management of children with achondroplasia in Italy: results of clinician and parent/caregiver surveys [PDF]
, 2023 Purpose: This study aimed to assess the real-world management of achondroplasia in Italy. Methods: Two online surveys addressed to (1) parents/caregivers of individuals with achondroplasia and (2) Italian clinicians managing individuals with ...
Antoniazzi, F +10 more
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Anestesia espinal en operación cesárea de paciente acondroplásica: reporte de caso [PDF]
, 2023 Introduction: the successful use of regional anesthesia in achondroplasic pregnant women with a high-risk pregnancy during cesarean section, although it has been described, is infrequent since most anesthesiologists prefer the use of general anesthesia ...
Fernández Rodríguez , Yuleidy +2 more
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Risk factors for obstructive sleep apnea syndrome in children: state of the art [PDF]
, 2019 The obstructive sleep apnea syndrome (OSAS) represents only part of a large group of pathologies of variable entity called respiratory sleep disorders (RSD) which include simple snoring and increased upper airway resistance syndrome (UARS).
Bellini, Chiara +16 more
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Genetics of Growth Disorders-Which Patients Require Genetic Testing? [PDF]
, 2019 The second 360° European Meeting on Growth Hormone Disorders, held in Barcelona, Spain, in June 2017, included a session entitled Pragmatism vs. Curiosity in Genetic Diagnosis of Growth Disorders, which examined current concepts of genetics and growth in
Argente, J +3 more
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, 2021 This book provides detailed and comprehensive coverage on various aspects of prenatal diagnosis-with particular emphasis on sonographic and molecular diagnostic issues.
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Guidance for the identification of bony lesions related to smallpox [PDF]
, 2023 ObjectiveThis research aimed to address the underrepresentation of smallpox (osteomyelitis variolosa) in palaeopathology, providing a synthesis of published literature and presenting guidance for the identification of osteomyelitis variolosa in non-adult
Crawford, Rosie R. +2 more
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Clinical Genetics in Britain: Origins and development [PDF]
, 2010 Annotated and edited transcript of a Witness Seminar held on 23 September 2008. Introduction by Professor Sir John Bell, Uiversity of Oxford.First published by the Wellcome Trust Centre for the History of Medicine at UCL, 2010.©The Trustee of the ...
Harper, PS, Reynolds, LA, Tansey, EM
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