Radio-Ulnar Synostosis Type 1

Last update 01 Nov 2024

Basic Info

Synonyms

Congenital radio-ulnar synostosis, Radio-ulnar synostosis type 1, 放射性尺骨突触1型

Introduction-

100 Clinical Results associated with Radio-Ulnar Synostosis Type 1

100 Translational Medicine associated with Radio-Ulnar Synostosis Type 1

0 Patents (Medical) associated with Radio-Ulnar Synostosis Type 1

119

Literatures (Medical) associated with Radio-Ulnar Synostosis Type 1

10 Aug 2024·Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

[Advances in genetic research on Non-syndromic congenital joint synostosis].

Review

Author: Yang, Yongjia ; Shen, Fang ; Deng, Mei

Congenital joint synostosis (CJS) is a functional impairment resulting from failure in joint morphogenesis during embryonic development. Clinically, it may be classified as syndromic (sCJS) and non-syndromic (nsCJS) disorders. Common sCJS include chromosomal disorders such as Klinefelter syndrome and single-gene disorders like Apert/Pfeiffer/Crouzon syndromes, Holt-Oram syndrome, Ehlers-Danlos syndrome, and Radial-ulnar synostosis with thrombocytopenia, presenting with multiple system/organ anomalies. By contrast, nsCJS manifest with only joint abnormalities, affecting one or multiple joints. This review has focused on human nsCJS and its genetic etiology. To date, variants in seven genes (NOG, GDF5, FGF9, GDF6, FGF16, SMAD6, and MECOM) have been identified as causative factors for nsCJS. This review has focused on such genes and provided a comprehensive review for the clinical phenotypes, genetic patterns, common variants, and underlying mechanisms associated with nsCJS based on a literature review. In addition, it has also analyzed other candidate genes for nsCJS within the context of relevant signaling pathways involved in joint morphogenesis.

01 Jun 2024·European Journal of Medical Genetics

Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy)

Article

Author: Calaya, Anais ; Randrianaivo, Hanitra ; Irabé, Mireille ; Celse, Tristan ; Dumont, Coralie ; Munier, Patrick ; Laurens, Tiffany ; Payet, Frédérique ; Spodenkiewicz, Marta ; Doray, Bérénice ; Bertaut-Nativel, Bénédicte ; Morel, Godelieve ; Jacquemont, Marie-Line ; Guilly, Suzie ; Dospeux, Jessica ; Alessandri, Jean-Luc ; Ferroul, Fanny ; Huby, Thomas ; Boumahni, Brahim ; Rémy, Mathilde

Larsen of La Réunion Island syndrome (LRS) is an autosomal recessive condition associated with multiple large joint dislocations, clubfeet, severe dwarfism, and distinctive facial features. LRS is caused by a recurrent homozygous variant in B4GALT7 gene with a founder effect in La Réunion population. Proteoglycans (PG) that are a major component of the extracellular matrix, are composed of a core protein connected to a glycosaminoglycans side chain via a tetrasaccharide linker region. B4GALT7 encodes galactosyltransferase I, one of the enzymes involved in the biosynthesis of the linker region. Conditions caused by pathogenic biallelic variants in genes implicated in the synthesis of the tetrasaccharide linker of PG are known as linkeropathies. Prenatal features are rarely described in this group of chondrodysplasias. We present a series of 12 unpublished patients having LRS and describe the perinatal phenotype. All the patients had a prenatal growth restriction with brevity of limbs. The other features revealed by ultrasounds were increased nuchal translucency at 10-12 weeks of gestation (50 %), feet abnormalities (clubfeet or metatarsus varus) (25 %), dislocation affecting at least one large joint (elbow, knee, wrist) (25 %). Bilateral bowing of femora was noted for two fetuses. Fibular hypertrophy was noted for one fetus. Prenatal helical computed tomography (CT) performed in three pregnancies showed additional data such as bowing of the forearm bones, proximal radio-ulnar synostosis, or dislocation of large joints. Prenatal sonographic and helical CT findings led to the prenatal diagnosis of LRS in four patients. We confirm that the neonatal clinical picture of LRS has an important overlap with that reported in patients with B4GALT7 deficiency outside La Réunion Island and other linkeropathies. The core of the phenotypic spectrum combines low birth height, micromelia, hypermobility, dislocation of at least one large joint, facial features with prominent eyes, microstomia, depressed nasal bridge, and midface hypoplasia. Other clinical features include clubfeet (33%), bifid thumb in one patient, and cardiac abnormalities in two patients. Radiological findings include radio-ulnar synostosis (75%), metaphyseal flaring, precocious carpal ossification, and a Swedish key appearance of the proximal femora. Finally, we also report radiological features rarely described in B4GALT7-linkeropathies, including bowing of the femora and fibular hypertrophy. Our results confirm the phenotypic continuum of LRS within linkeropathies with some additional findings, including a high frequency of clubfeet usually described in B3GALT6-linkeropathies, the presence of congenital heart diseases usually described in B3GAT3-linkeropathies, and a high frequency of metaphyseal flaring usually reported in B3GALT6 or XITLT1-linkeropathies. This is the first study that describes the perinatal phenotype in a cohort of patients with LRS. This study can help improve the prenatal diagnosis of the linkeropathies and add this group of conditions to the differential diagnosis of chondrodysplasias with multiple dislocations. In view of the founder effect for LRS in La Réunion Island, this disease should be suspected in fetuses with growth restriction and micromelia. Thus in case of LOH which include B4GALT7 identified in SNP-array, we recommend performing a targeted Sanger sequencing for the recurrent mutation c.808C > T; p. (Arg270Cys).

01 Jan 2024·Journal of Orthopaedic Case Reports

Post-Traumatic Radio-ulnar Synostosis Managed by the Excision of the Bone Bridge and Palmaris Longus Encircling Loop over the Ulna: A Case Report

Article

Author: Dharmshaktu, Ishwar Singh ; Yadav, Krishna Dev Singh ; Dharmshaktu, Ganesh Singh

Introduction: Radioulnar synostosis is an uncommon complication of forearm fractures and presents with varying degrees of restricted forearm movement. The diaphysial distal third synostosis is less common and excision of the synostosis is fraught with risk of re-ossification. Use of inert or biological interposing material has thus been accompanied with the synostosis excision and various methods have been described. There is still no consensus on the ideal treatment method. Case Report: We, hereby, report a case of a long-standing radioulnar synostosis with rotational restriction of movement. Despite the movement restriction, the patient could perform basic activities of daily living and wanted to improve the movements. The presence of diaphyseal radioulnar synostosis was conformed on the radiographs and computerized tomography scan. A volar forearm approach was used and the bony bridge was excised. The ipsilateral native palmaris longus (PL) tendon was extracted from distal wrist crease and with its proximal attachment intact, circumferentially wrapped around the ulnar raw surface as an interposing material. Apart from this, free fat was also placed at the synostosis site. In the long-term follow-up of 10 years, there was no radiological evidence of re-ossification noted. The clinical improvement was not much but the patient was performing activities of daily living with no discomfort. Conclusion: The use of an encircling loop of the native PL tendon, over the raw surface of one of the forearm bones, may be another useful method to decrease the chances of recurrence following the excision of the synostosis. Keywords: Post-traumatic synostosis, radioulnar synostosis, excision, forearm bone synostosis, heterotopic ossification, management.

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Radio-Ulnar Synostosis Type 1

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