American Journal of Medical Genetics Part C: Seminars in Medical GeneticsVolume 193, Issue 1 p. 1-2 ISSUE INFORMATIONFree Access Table of Contents, Volume 193, Number 1, March 2023 First published: 23 March 2023 https://doi.org/10.1002/ajmg.c.31974AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat Volume193, Issue1Special Issue: Gene‐Targeted Therapies: Early Diagnosis and Equitable DeliveryMarch 2023Pages 1-2 RelatedInformation

American Journal of Medical Genetics Part C: Seminars in Medical GeneticsVolume 193, Issue 2 p. 99-100 ISSUE INFORMATIONFree Access Table of Contents, Volume 193, Number 2, June 2023 First published: 21 June 2023 https://doi.org/10.1002/ajmg.c.31977AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat Volume193, Issue2Special Issue: Genetic Syndromes in AdultsJune 2023Pages 99-100 RelatedInformation

American Journal of Medical Genetics Part C: Seminars in Medical GeneticsVolume 190, Issue 4 p. 407-408 ISSUE INFORMATIONFree Access Table of Contents, Volume 190, Number 4, December 2022 First published: 06 January 2023 https://doi.org/10.1002/ajmg.c.31927AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Volume190, Issue4Special Issue: Molecular advances, clinical management, and treatment opportunities in RASopathiesDecember 2022Pages 407-408 RelatedInformation

This chapter discusses osteogenesis imperfecta and other disorders with decreased bone density and includes discussion on osteogenesis imperfecta itself, osteogenesis imperfecta (type I), osteogenesis imperfecta (type IIA), osteogenesis imperfecta (type IIC), osteogenesis imperfecta (type III/IIB), osteogenesis imperfecta (type IV), osteogenesis imperfecta (type V), idiopathic juvenile osteoporosis, Bruck syndrome, Cole-Carpenter syndrome, Stüve-Wiedemann syndrome, osteoporosis-pseudoglioma syndrome, spondyloocular dysplasia, geroderma osteodysplasticum, calvarial doughnut lesions-osteoporosis syndrome, and gnathodiaphyseal dysplasia. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

This chapter discusses metaphyseal eysplasias and explores metaphyseal chondrodysplasia (Schmid type), cartilage-hair hypoplasia, metaphyseal dysplasia (Spahr type), metaphyseal anadysplasia, Shwachman syndrome, metaphyseal chondrodysplasia (Jansen type), Eiken dysplasia, and chronic infantile neurologic cutaneous and articular syndrome (CINCA). Each discussion includes major clinical findings, major radiographic features, genetics, major differential diagnoses, and a bibliography.

This chapter further discusses bone dysplasias and explores achondrogenesis type 1A, odontochondrodysplasia, Schneckenbecken dysplasia, opsismodysplasia, spondylometaphyseal dysplasia (Sedaghatian type), spondyloenchondrodysplasia, SEMD (PAPSS2 type) and brachyolmia (autosomal recessive type), Dyggve-Melchior-Clausen dysplasia, spondylometaepiphyseal dysplasia (short limb-abnormal calcification type), spondylometaphyseal dysplasia with cone-rod dystrophy, dyssegmental dysplasia, Schwartz-Jampel syndrome, spondyloepiphyseal dysplasia tarda (X-linked), aggrecan-associated skeletal dysplasias, Wolcott-Rallison syndrome, Schimke immunoosseous dysplasia, progressive pseudorheumatoid chondrodysplasia, spondylometaphyseal dysplasia (corner fracture type), sponastrime dysplasia, CODAS syndrome, N-acetyl-neuraminic acid synthase (NANS) deficiency, and spondylo-epi-metaphyseal dysplasia with immune deficiency and developmental disability (EXTL3-deficient type). Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

This chapter further discusses bone dysplasias and includes discussion on achondrogenesis (type IB), atelosteogenesis type 2, diastrophic dysplasia, multiple epiphyseal dysplasia (recessive type [rMED]), Desbuquois dysplasia, chondrodysplasia with joint dislocations (IMPAD1/gPAPP type), Catel-Manzke syndrome, chondrodysplasia with congenital joint dislocations (CHST3-type), temtamy preaxial brachydactyly syndrome (TPBS), B4GALT7 deficiency, B3GAT3 deficiency, XYLT1 deficiency, spondyloepimetaphyseal dysplasia with joint laxity Beighton type, spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type), pseudodiastrophic dysplasia, and Steel syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

This chapter discusses achondroplasia and related FGFR3 conditions and explores thanatophoric dysplasia (Types 1 and 2), achondroplasia, hypochondroplasia, and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN). Each discussion includes major clinical findings, major radiographic features, genetics, major differential diagnoses, and a bibliography.

This chapter discusses rhizo-mesomelic dysplasias and related disorders and includes discussion on omodysplasia (autosomal recessive), Robinow syndrome, dyschondrosteosis, mesomelic dysplasia (Langer type), mesomelic dysplasia (Kantaputra type), mesomelic dysplasia (Werner type), mesomelic dysplasia (Reardon-Kozlowski type), mesomelic dysplasia (Nievergelt-Savarirayan type), and mesomelic dysplasia with acral synostoses. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

This chapter discusses short-rib (± polydactyly) dysplasias and related disorders and includes discussion on asphyxiating thoracic dysplasia, Ellis van Creveld syndrome, short rib ±polydactyly syndrome (Saldino-Noonan and Verma-Naumoff types), short rib (±polydactyly) syndrome (Majewski type), short rib ±polydactyly syndrome (Beemer-Langer type), cranioectodermal dysplasia, Mainzer-Saldino syndrome, and axial spondylometaphyseal dysplasia. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

This chapter discusses punctate calcification group and related disorders and includes discussion on Greenberg dysplasia, chondrodysplasia punctata Conradi-Hünermann type, CHILD (congenital hemidysplasia with ichthyosiform erythroderma and limb defects) syndrome, chondrodysplasia punctata (rhizomelic type), chondrodysplasia punctata (brachytelephalangic type), chondrodysplasia punctata (autosomal dominant type), chondrodysplasia punctata (tibia-metacarpal type), and Keutel syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

This is a unique atlas presenting age-related radiographs on more than 250 rare constitutional skeletal diseases (dysplasias, dysostoses, osteolyses, disorders of bone density, and more) focusing on diagnostically essential radiographic and clinical features. Each chapter is supplemented with prognostic and therapeutic information, a guide to differential diagnoses, and a short list of the most relevant publications. A major advantage is the systematic conformation of chapters, sparing the reader a cumbersome read-through of longer text. Presentation in accordance with the most recent International Nosology and Classification of Genetic Skeletal Disorders.

This chapter discusses dense bone dysplasias with normal bone shape and includes discussion on osteopetroses, Raine dysplasia, infantile osteopetrosis, osteopetrosis (intermediate), osteopetrosis (late onset forms), osteopetrosis with renal tubular acidosis, dysosteosclerosis, pyknodysostosis, osteomesopyknosis, osteopetrosis (lymphedema, ectodermal dysplasia, immune defect), osteopoikilosis, melorheostosis, and osteopathia striata with cranial sclerosis. Osteoclasts play important roles during bone growth and in maintaining bone health and bone homeostasis. Dysfunction or lack of osteoclasts is under the control and interaction of many genes and leads to increased bone mass and osteopetrosis phenotypes. Increased bone density in osteopetrosis is also accompanied by some loss of modelling resulting in widening of the affected sclerotic transverse striations. The intermittent nature of the sclerosis results in areas of normal bone density and normal modelling in between the sclerotic bands. The mechanisms related to the apparent “switching off” of the abnormal osteoclastic activity has not yet been elucidated. Most of the conditions in this section are related to a failure of osteoclast function. Each condition discussed includes major radiographic features, major clinical findings, genetics, major differential diagnoses, progress, complications and potential therapies, and a bibliography.

This chapter discusses overgrowth/accelerated skeletal maturation syndromes and includes discussion on Marshall-Smith syndrome, Moreno-Nishimura-Schmidt overgrowth syndrome, Weaver syndrome, and CNP-overexpression overgrowth syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

This chapter further discusses bone dysplasias and includes discussion on 3M syndrome, Kenny-Caffey syndrome, osteocraniostenosis, microcephalic osteodysplastic primordial dwarfism (types 1 and 3), microcephalic osteodysplastic primordial dwarfism (type 2), and IMAGE (intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies) syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

This chapter further discusses bone dysplasias and includes discussion on hypophosphatasia, neonatal severe primary hyperparathyroidism, and hereditary rickets. Each discussion includes major radiographic features, major clinical findings, major laboratory findings, genetics, major differential diagnoses, and a bibliography.

This chapter further discusses bone dysplasias and includes discussion on campomelic dysplasia, cousin dysplasia, spondylo-megaepiphyseal-metaphyseal dysplasia, cleidocranial dysplasia, Yunis-Varon syndrome, CDAGS, nail-patella syndrome, ischio-pubic-patellar dysplasia, ischiospinal dysostosis, and cerebro-costo-mandibular syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

This chapter discusses filamin-associated dysplasias/dysostoses and related disorders and includes discussion on otopalatodigital syndrome type 1, otopalatodigital syndrome type II, Melnick-Needles osteodysplasty, frontometaphyseal dysplasia, boomerang dysplasia/atelosteogenesis type I, atelosteogenesis type III, Larsen syndrome (autosomal dominant), spondylocarpotarsal synostosis syndrome, and Frank-ter Haar syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

This chapter discusses spondylocostal dysostoses. The discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

This chapter further discusses bone dysplasias, and explores achondrogenesis II (hypochondrogenesis), platyspondylic dysplasia (Torrance type), spondyloepiphyseal dysplasia congenita, spondylo-epi-metaphyseal dysplasia (Strudwick type), Kniest dysplasia, spondyloepiphyseal dysplasia (Stanescu type), spondyloperipheral dysplasia, spondyloepiphyseal dysplasia with short metatarsals, Stickler dysplasia, fibrochondrogenesis, and oto-spondylo-megaepiphyseal dysplasia. Each discussion includes major clinical findings, major radiographic features, genetics, major differential diagnoses, and a bibliography.