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Evaluation of a Child with Short Stature
Published in Nirmal Raj Gopinathan, Clinical Orthopedic Examination of a Child, 2021
Nirmal Raj Gopinathan, Anupriya Kaur, Chakshu Chaudhry
Apart from craniofacial characteristics, there are other findings that are not to be missed (Tables 16.3 and 16.4). For example, diastrophic dysplasia is characterized by a markedly abducted thumb (“hitchhiker’s thumb”). Ellis–van Creveld syndrome is characterized by exceptionally well-formed polydactyly. One of the hallmarks in achondroplasia is a trident hand where there is relative abduction of the index and middle finger one way and the ring and little finger the other way (Figure 16.10). Coccygeal tail is seen in metatropic dysplasia apart from an inguinal hernia. Although the workup of skeletal dysplasia comprises clinical, radiographic, and genetic workup, careful physical examination can help us proceed in a focused way toward further workup.
Paediatrics
Published in Dave Maudgil, Anthony Watkinson, The Essential Guide to the New FRCR Part 2A and Radiology Boards, 2017
Dave Maudgil, Anthony Watkinson
The following conditions may result in dumb-bell shaped bones. True or false? Osteogenesis imperfecta.Ellis–van Creveld syndrome.Mucopolysaccharidoses.Hypophosphatasia.Rhabdomyosarcoma.
Radiological Mimickers of Physical Child Abuse
Published in B. G. Brogdon, Tor Shwayder, Jamie Elifritz, Child Abuse and Its Mimics in Skin and Bone, 2012
B. G. Brogdon, Tor Shwayder, Jamie Elifritz
Chondroectodermal dysplasia is an autosomal recessive disorder with polydactyly, syndactyly, ectodermal dysplasia, congenital heart disease, narrowed thoracic cavity, and dwarfism. Delayed and abnormal eruption of teeth may be evident at birth. One-third of those affected expire in the neonatal period, most likely secondary to concomitant cardiac and respiratory compromise. The syndrome was first described in 1940 by R. Ellis and S. van Creveld.69 The EvC gene is found on the short arm of chromosome 4. Although the exact prevalence is unknown, Ellis-van Creveld syndrome is more common among the Amish population, specifically a subset in Pennsylvania.70,71
Fetal Skeletal Dysplasias: Radiologic-Pathologic Classification of 72 Cases
Published in Fetal and Pediatric Pathology, 2022
Short ribs and trident acetabula with or without polydactyly were common abnormalities of these conditions. Verma-Naumoff syndrome was diagnosed based on severe micromelia, narrow tubular thorax and cupped spiculated metaphyses of the long bones with the characteristic ‘‘ball-in-cone’’ appearance (Figure 7a, b). Jeune syndrome was recognized as a variant of the Verma-Naumoff syndrome, with moderate phenotypic presentation, radiologic angular appearance of metaphyses and biliary fibroadenomatosis. Bone histologic anomalies, which were of lesser severity in Jeune syndrome, encompassed variable appearances of the growth plate, thick diaphyseal bone trabeculae with lateral extension of the growth plate into the diaphysis (Figure 7c–e). Ellis-Van Creveld syndrome was diagnosed based on micromelia, long trunk with narrow thorax, ectodermal dysplasia, dysplastic/hypoplastic teeth and nails, labiogingival adhesions and heart defects, and short tubular bones with clubbed epiphyses (Figure 8a, b). Majewski syndrome was associated with characteristic craniofacial dysmorphism (flat square face, bilateral microphthalmia), cleft gum and palate, multiple gingival frenulae and lingual hamartomas, narrow thorax with protuberant abdomen, micromelia, polysyndactyly, ambiguous genitalia, and visceral anomalies which especially included epididymal cysts, biliary fibroadenomatosis and large multicystic dysplastic kidneys. Radiologic examination showed rounded metaphyseal ends, extremely short tibiae and hypoplastic fibulae (Figure 8c–f).