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Skeletal dysplasia is a heterogeneous group of abnormalities affecting growth and development of bone and cartilage characterized by disproportionate shortening of the limbs and/or spine. A systematic radiographic approach combined with pertinent clinical details can help guide specific genetic testing and treatment. We provide a discussion and examples of a few common and notable skeletal dysplasias to help familiarize general, pediatric, and musculoskeletal radiologists who do not commonly encounter children with these entities in their daily practices.
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http://dx.doi.org/10.1055/s-0037-1608005 | DOI Listing |
Clin Case Rep
September 2025
Department of Pediatrics Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology Wuhan Hubei China.
Brachyolmia type 4 (BCYM4, OMIM 612847) is a rare skeletal dysplasia characterized by mild epiphyseal and metaphyseal abnormalities. We report a Chinese boy with brachyolmia caused by a novel compound heterozygous mutation in the gene. Prenatal ultrasound revealed shortened long bones, and his birth length was markedly reduced (45 cm, -3.
View Article and Find Full Text PDFFront Med (Lausanne)
August 2025
Research Centre for Medical Genetics, Moscow, Russia.
Acroscyphodysplasia (ASD) is an ultra-rare skeletal dysplasia characterized by severe brachydactyly, metaphyseal scaphoid knee deformities, growth retardation, and intellectual disability. To date, only seven cases of ASD have been reported, all associated with missense variants in the gene. We report a 7-year-old girl with ASD features, including midface hypoplasia, severe growth retardation (-4.
View Article and Find Full Text PDFCalcif Tissue Int
September 2025
Department of Endocrinology, Post-Graduate Institute of Medical Education and Research (PGIMER), 001, Nehru Extension Block, Chandigarh, India.
Rare diseases, defined by the 2002 Rare Disease Act, affect fewer than 5 in 10,000 individuals. Rare metabolic bone diseases (MBDs), such as osteogenesis imperfecta, hypophosphatasia, osteopetrosis, and other unclassified disorders, can disrupt bone development and remodeling, posing diagnostic and management challenges. This study analyzed data from the rarembd.
View Article and Find Full Text PDFJ Craniofac Surg
September 2025
Department of Otorhinolaryngology-Head and Neck Surgery, St. Vincent's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
Fibrous dysplasia, a rare skeletal disorder marked by replacement of normal bone with fibrous tissue and disorganized woven bone, most commonly affects the craniofacial region. Although craniofacial fibrous dysplasia (CFD) typically progresses slowly and remains asymptomatic, it can occasionally give rise to complications. The authors report a unique case of an intralesional abscess within maxillary CFD in an 88-year-old man presenting with acute facial pain and swelling.
View Article and Find Full Text PDFFront Pediatr
August 2025
Guangxi Key Laboratory of Birth Defects Research and Prevention, Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Cardiospondylocarpofacial syndrome (CSCFS) is an extremely rare autosomal dominant disorder resulting from variant in the gene, which encodes the transforming growth factor-β-activated kinase 1 (TAK1). Only 26 cases of CSCFS have been reported worldwide. The main manifestations are growth retardation, hypotonia, dysmorphic facial features, skeletal and limb abnormalities, cardiac septal defects with valve dysplasia, cardiomyopathy, and deafness with inner ear malformations.
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