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Journal of Medicine and Life Apr 2022Fibular hemimelia is defined as a partial or complete absence of the fibula. Alongside fibular deformities, there is a wide spectrum of anomalies, foot deformities, and... (Review)
Review
Fibular hemimelia is defined as a partial or complete absence of the fibula. Alongside fibular deformities, there is a wide spectrum of anomalies, foot deformities, and absent rays. A literature review showed only a handful of cases of prenatal diagnosis of fibular hemimelia. It is a rare disorder that might be isolated or associated with visceral anomalies.
Topics: Ectromelia; Female; Fibula; Humans; Pregnancy; Prenatal Diagnosis
PubMed: 35646168
DOI: 10.25122/jml-2021-0397 -
The Pan African Medical Journal 2021
Topics: Abnormalities, Multiple; Child, Preschool; Ectromelia; Foot Deformities, Congenital; Hand Deformities, Congenital; Humans; Male; Nose
PubMed: 34887989
DOI: 10.11604/pamj.2021.40.115.28167 -
Journal of Children's Orthopaedics Dec 2016Tibial hemimelia is a rare congenital lower limb deficiency presenting with a wide spectrum of associated congenital anomalies, deficiencies and duplications.... (Review)
Review
Tibial hemimelia is a rare congenital lower limb deficiency presenting with a wide spectrum of associated congenital anomalies, deficiencies and duplications. Reconstructive options have been limited, and the gold standard for treatment has remained amputation with prosthetic fitting. There is now a better understanding of the genetics, etiology and pathoanatomy of tibial hemimelia. Armed with this knowledge, I present here a new classification to guide treatment and prognosis and then discuss new treatment strategies and techniques for limb reconstruction based on this new classification scheme.
PubMed: 27909860
DOI: 10.1007/s11832-016-0785-x -
Children (Basel, Switzerland) May 2021Tibial hemimelia is a rare congenital deficiency with a wide spectrum of pathology and deformity. This paper aims to give a comprehensive review of tibial hemimelia,... (Review)
Review
Tibial hemimelia is a rare congenital deficiency with a wide spectrum of pathology and deformity. This paper aims to give a comprehensive review of tibial hemimelia, with a concise summary of the history, pathology, and clinical findings of tibial hemimelia, while providing treatment recommendations and a review of the current literature. Classifications and surgical treatments are discussed, including amputation, limb reconstruction, and lengthening. Type-specific treatments are also discussed, including staged distraction correction of joint contractures of knee and ankle, Weber patelloplasty, fibular centralization, knee and ankle arthrodesis, implantable articulated distractors, and the role of femoral shortening. Amputation is a simpler and easier solution for many patients; however, reconstruction options continue to evolve, improve, and provide better functional outcomes in many cases. Factors favoring surgical reconstruction include the presence of a knee joint/proximal tibia, and the presence of a patella and quadriceps mechanism.
PubMed: 34072809
DOI: 10.3390/children8060461 -
Developmental Dynamics : An Official... Nov 2017Genetic mapping studies reveal that mutations in cohesion pathways are responsible for multispectrum developmental abnormalities termed cohesinopathies. These include... (Review)
Review
Genetic mapping studies reveal that mutations in cohesion pathways are responsible for multispectrum developmental abnormalities termed cohesinopathies. These include Roberts syndrome (RBS), Cornelia de Lange Syndrome (CdLS), and Warsaw Breakage Syndrome (WABS). The cohesinopathies are characterized by overlapping phenotypes ranging from craniofacial deformities, limb defects, and mental retardation. Though these syndromes share a similar suite of phenotypes and arise due to mutations in a common cohesion pathway, the underlying mechanisms are currently believed to be distinct. Defects in mitotic failure and apoptosis i.e. trans DNA tethering events are believed to be the underlying cause of RBS, whereas the underlying cause of CdLS is largely modeled as occurring through defects in transcriptional processes i.e. cis DNA tethering events. Here, we review recent findings described primarily in zebrafish, paired with additional studies in other model systems, including human patient cells, which challenge the notion that cohesinopathies represent separate syndromes. We highlight numerous studies that illustrate the utility of zebrafish to provide novel insights into the phenotypes, genes affected and the possible mechanisms underlying cohesinopathies. We propose that transcriptional deregulation is the predominant mechanism through which cohesinopathies arise. Developmental Dynamics 246:881-888, 2017. © 2017 Wiley Periodicals, Inc.
Topics: Animals; Cell Cycle Proteins; Chromosomal Proteins, Non-Histone; Craniofacial Abnormalities; De Lange Syndrome; Ectromelia; Genetic Association Studies; Humans; Hypertelorism; Nervous System Diseases; Transcription, Genetic; Zebrafish; Cohesins
PubMed: 28422453
DOI: 10.1002/dvdy.24510 -
Journal of Medical Genetics Mar 1973
Review
Topics: Abnormalities, Drug-Induced; Abnormalities, Multiple; Anemia, Aplastic; Anorexia Nervosa; Arm; Cleft Lip; Cleft Palate; Ectromelia; Female; Genes; Heart Defects, Congenital; Hot Temperature; Humans; Phenotype; Pregnancy; Radius; Spine; Syndactyly; Thalidomide; Thrombocytopenia; Thumb; Tibia
PubMed: 4354695
DOI: 10.1136/jmg.10.1.34 -
Wiley Interdisciplinary Reviews.... 2015Cohesin is a chromosome-associated protein complex that plays many important roles in chromosome function. Genetic screens in yeast originally identified cohesin as a... (Review)
Review
Cohesin is a chromosome-associated protein complex that plays many important roles in chromosome function. Genetic screens in yeast originally identified cohesin as a key regulator of chromosome segregation. Subsequently, work by various groups has identified cohesin as critical for additional processes such as DNA damage repair, insulator function, gene regulation, and chromosome condensation. Mutations in the genes encoding cohesin and its accessory factors result in a group of developmental and intellectual impairment diseases termed 'cohesinopathies.' How mutations in cohesin genes cause disease is not well understood as precocious chromosome segregation is not a common feature in cells derived from patients with these syndromes. In this review, the latest findings concerning cohesin's function in the organization of chromosome structure and gene regulation are discussed. We propose that the cohesinopathies are caused by changes in gene expression that can negatively impact translation. The similarities and differences between cohesinopathies and ribosomopathies, diseases caused by defects in ribosome biogenesis, are discussed. The contribution of cohesin and its accessory proteins to gene expression programs that support translation suggests that cohesin provides a means of coupling chromosome structure with the translational output of cells.
Topics: Animals; Cell Cycle Proteins; Chromosomal Proteins, Non-Histone; Craniofacial Abnormalities; De Lange Syndrome; Ectromelia; Humans; Hypertelorism; Protein Biosynthesis; Cohesins
PubMed: 25847322
DOI: 10.1002/wdev.190 -
Journal of Children's Orthopaedics Apr 2024Fibular hemimelia has denoted a spectrum of postaxial longitudinal deficiency with fibular aplasia/hypoplasia; the term "terminal hemimelia" is reserved for patients...
PURPOSE
Fibular hemimelia has denoted a spectrum of postaxial longitudinal deficiency with fibular aplasia/hypoplasia; the term "terminal hemimelia" is reserved for patients with postaxial longitudinal deficiency having a normal fibula. We aimed to delineate the characteristics of terminal hemimelia.
METHODS
In total, 30 patients with postaxial longitudinal deficiency who had a normal or hypoplastic fibula and visited our institution between 1992 and 2022 were reviewed. Patients were divided into terminal hemimelia and classic fibular hemimelia groups, and their demographic characteristics and clinical and radiographic findings were compared.
RESULTS
Femoral shortening, knee valgus, and tibial spine hypoplasia were less common in terminal hemimelia (n = 13) than in classic fibular hemimelia (n = 17) (p = 0.03, p < 0.001, and p = 0.003, respectively). None of the patients in the terminal hemimelia group exhibited knee instability, whereas 12% of patients with classic fibular hemimelia did. Ball-and-socket ankle and absence of lateral rays were commonly observed in both groups. However, tarsal coalition was observed less frequently in terminal hemimelia (p = 0.004). All terminal hemimelia patients exhibited a painless plantigrade foot without ankle instability. Despite limb-length discrepancy at maturity averaging 40.4 mm for terminal hemimelia and 67.0 mm for classic fibular hemimelia (p < 0.001), patients with terminal hemimelia, except for one, exhibited > 20 mm of limb-length discrepancy. However, 46% of them underwent limb-length equalization procedures, mostly single-stage tibial lengthening, at a mean age of 11.2 years.
CONCLUSION
Terminal hemimelia may present with a milder phenotype than classic fibular hemimelia. It mainly overlaps with the symptoms of fibular hemimelia below the ankle joint and manifests as limb-length discrepancy. However, a considerable number of patients with terminal hemimelia required limb-length equalization procedures, for example single-stage tibial lengthening.
LEVEL OF EVIDENCE
level IV.
PubMed: 38567037
DOI: 10.1177/18632521241227830 -
BJR Case Reports 2015Fibular hemimelia is a rare congenital disorder with partial or complete absence of the fibula. It is usually associated with other osseous and soft tissue abnormalities...
Fibular hemimelia is a rare congenital disorder with partial or complete absence of the fibula. It is usually associated with other osseous and soft tissue abnormalities of the knee joint and lower limb. Here we report an interesting case of fibular hemimelia diagnosed incidentally with characteristic radiographic and magnetic resonance imaging MRI findings in the knee joint and lower limb. The radiologists need to be aware of the typical features and associations of fibular hemimelia so as to be able to guide further orthopaedic management in these patients.
PubMed: 30363589
DOI: 10.1259/bjrcr.20150237