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2.1
Humero-Ulnar Synostosis
Humero-Ulnar Fusion

Presentation

In the presented case, the upper limb defect was not associated with any other anomaly. It is similar to phocomelia type 3 (forearm deficient) but in phocomelia, hand structure is present. But it may occur as part of SC phocomelia syndrome. [eurorad.org]

It presents as shortening of upper limb, rigid elbow, ulnar clubbing and coalition or absence of metacarpals. [clinicsinsurgery.com]

Ladda}, journal={American journal of medical genetics}, year={1989}, volume={33 2}, pages={ 176-9 } } Sibs with virtually identical humero-radial synostosis (HRS) are presented and compared with 17 previously reported cases from the literature of recessively [semanticscholar.org]

The clinical case reported here illustrates a possibly avoidable presentation of this uncommon condition. In this case report, we present a 6-week-old male who presented with bilateral radius fractures. [karger.com]

Abstract Sibs with virtually identical humero-radial synostosis (HRS) are presented and compared with 17 previously reported cases from the literature of recessively transmitted HRS. [pennstate.pure.elsevier.com]

Entire Body System

  • Arachnodactyly

    […] also displays craniosynostosis with brachy-cephaly and frontal bossing, midface hypoplasia, choanal atresia, depressed nasal bridge, dysplastic ears, stenotic external auditory canals, bowed femurs, joint contractures, narrow chest with gracile ribs, arachnodactyly [rrnursingschool.biz]

Musculoskeletal

  • Platyspondyly

    Roberts-SC phocomelia syndrome (OMIM 268300) manifests with limb reduction defects (absent, hypoplastic, bowed, and deformed long and short tubular bones, missing rays), fused thin ribs with abnormal rib number, and platyspondyly with reduced intervertebral [rrnursingschool.biz]

Ears

  • Dysplastic Ears

    The syndrome also displays craniosynostosis with brachy-cephaly and frontal bossing, midface hypoplasia, choanal atresia, depressed nasal bridge, dysplastic ears, stenotic external auditory canals, bowed femurs, joint contractures, narrow chest with gracile [rrnursingschool.biz]

Treatment

Groves later postulated that the success of treatment depended on where in the forearm synostosis had occurred. [5, 6] Indications for surgical treatment of congenital radioulnar synostosis remain somewhat controversial but are related to bilaterality [emedicine.medscape.com]

The parents refused operative treatment. Fig. 1 Lateral radiograph, right elbow Full size image Congenital bilateral humeroradial synostoses are rare [1]. [link.springer.com]

[citation needed] Treatment[edit] It is sometimes possible to correct the problem with surgery, though this has high failure rates for treatment of post-traumatic radioulnar synostosis.[1] Indication for the surgical treatment of congenital radioulnar [en.wikipedia.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

It is reasonable to start CRUS surgical treatment at the age of 3 years. 5. All deformity variants are indications for surgical treatment, considering that treatment technique selection is determined by the degree of its severity. 6. [journals.eco-vector.com]

Prognosis

This entity can be distinguished from the TAR syndrome (thrombocytopenia and absent radii) by the distinctive orthopedic issues, different underlying genetic mutations, and a more worrisome prognosis for CAMT than for TAR. [mayoclinic.pure.elsevier.com]

Conservative observation Surgical early presentation (infancy) radial head reduction must have only mild deformity of radial head and capitellum technique: osteotomy of radius annular ligament reconstruction late presentation radial head excision Outcomes: Prognosis [posna.org]

Prognosis - Humeroradial synostosis Not supplied. Treatment - Humeroradial synostosis Not supplied. Resources - Humeroradial synostosis Not supplied. [checkorphan.org]

[…] two-group classification system: This was modified by Cleary and Omer8 to a four-group system: The drawbacks of the above classification systems are that they are based purely on anatomy or radiological appearance and are not useful for evaluating the prognosis [clinicalgate.com]

Etiology

Part A DOI: 10.1002/ajmg.a.38632 Congenital anomalies of the upper limbs are rare and etiologically heterogeneous. [semanticscholar.org]

Etiology unknown Genetics not specified 1/3 associated with other skeletal dysplasias Incidence unknown Associated Conditions radioulnar synostosis, ulnar dysplasia, nail-patella syndrome Clinical Evaluation: History / Exam Findings child is usually presents [posna.org]

These conditions were ruled out as a possible etiology in this case, as there is no evidence of remodeling or callous formation associated with fracture healing. [mcclungmuseum.utk.edu]

"Radioulnar Synostosis: Background, Pathophysiology, Etiology". eMedicine. Retrieved 2 March 2017. ^ a b "Congenital radio-ulnar synostosis | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. [en.wikipedia.org]

They help to detect underlying etiology such as callus formation after trauma. [pulsus.com]

Epidemiology

Post-traumatic radioulnar synostosis Epidemiology This is much more common Rate between 2-6% (the latter figure in a series which used a single incision approach to the forearm). [nsec.com.au]

[…] proximal radius and ulna Etiology forearm begins as a single cartilaginous anlage and divides from distal to proximal into the radius and ulna in the 7th week in utero failure of differentiation results in synostosis in proximal aspect of the forearm Epidemiology [orthobullets.com]

[…] separation of the distal radius and ulna for a time the proximal radius and ulna are united and share a common perichondrium abnormal genetic or teratogenic factors operating at this time would interfere with proximal radioulnar joint morphogenesis Epidemiology [gait.aidi.udel.edu]

Chung KC, Spilson SV (2001) The frequency and epidemiology of hand and forearm fractures in the United States. J Hand Surg Am 26(5):908–915 CrossRef PubMed Google Scholar 2. [link.springer.com]

[…] radius and ulna, or injury to the interosseous membrane. [14] Patients with closed head injuries (skull/cranial trauma) appear to be more prone to this complication, presumably for the same reason that they develop heterotopic ossification. [15, 16] Epidemiology [emedicine.medscape.com]

Pathophysiology

"Radioulnar Synostosis: Background, Pathophysiology, Etiology". eMedicine. Retrieved 2 March 2017. ^ a b "Congenital radio-ulnar synostosis | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. [en.wikipedia.org]

Groves later postulated that the success of treatment depended on where in the forearm synostosis had occurred. [4, 5] Pathophysiology The skeletal anomaly includes varying degrees of proximal radial and ulnar fusion, with or without involvement of the [emedicine.medscape.com]

Prevention

Interposition is thought to prevent recurrence and minimize scar formation. [dovepress.com]

Hence, early diagnosis and proper parental education could prevent fractures as a sequela of HRS. © 2021 The Author(s). Published by S. [karger.com]

Careful dissection with minimal periosteal disruption prevents the further stimulation of bone, limiting recurrence. [emedicine.medscape.com]

The contracted soft tissues will also prevent any meaningful return of motion. Derotation and fixation in the derotated position is preferred. [nsec.com.au]

These involve excision of synostosis and interposition of inert tissue to prevent reformation of synostosis, However, synostosis typically recurs inspite of the interposition of silicone, fat, or muscle. [boneandspine.com]

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