Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant multisystem disorder caused by mutations in the NOTCH2 gene, leading to dysregulation of the Notch signaling pathway. It is characterized by a broad and variable clinical spectrum, including acroosteolysis, osteoporosis, short stature, craniofacial dysmorphism, and potential cardiovascular, renal, and neurological involvement. We report the case of a 16-year-old boy, born to consanguineous parents, who was referred for evaluation of facial dysmorphism. Clinical examination revealed typical features of HCS, including brachycephaly with a prominent occiput, hypertelorism with telecanthus, low-set ears, long philtrum, micrognathia, thick hair and eyebrows, periodontal disease with early tooth loss, brachydactyly with pseudo-clubbing, and pectus carinatum. The patient had a history of surgically treated patent ductus arteriosus. Radiological investigations showed kyphoscoliosis, generalized osteoporosis with multiple fractures, delayed closure of cranial sutures, an enlarged J-shaped sella turcica, and transverse acroosteolysis of the distal phalanges. Brain MRI revealed basilar invagination with compression of the acoustic-facial nerve bundle, explaining progressive bilateral hearing loss. Laboratory findings were within normal limits, with no abnormalities in calcium-phosphate metabolism or inflammatory markers. Whole-exome sequencing identified a heterozygous nonsense mutation in the NOTCH2 gene (NM_024408.4.6484del), classified as likely pathogenic, confirming the diagnosis of HCS. The patient was treated with IV zoledronic acid every six months, along with calcium and vitamin D supplementation. This case illustrates the multisystem and highly variable presentation of HCS. The combination of characteristic skeletal, craniofacial, neurological, and cardiovascular features associated with a de novo NOTCH2 mutation broadens the clinical spectrum of this exceptionally rare disorder. Advances in understanding the role of Notch signaling may lead to targeted therapies in the future. Prognosis depends on the severity of systemic complications, particularly neurological involvement and thoracic deformities leading to respiratory impairment.

Background  We sought to evaluate the intermediate term outcomes of trapeziectomy with double Mini TightRope suture suspensionplasty and flexor carpi radialis to abductor pollicis longus imbrication for the treatment of basilar thumb joint arthritis. Case Description  We performed a retrospective review of patients from 2012 to 2021 at a single institution within a standardized protocol. Thirty-nine patients (46 thumbs) with a mean age of 61 years and clinical follow-up of 2.8 years met our inclusion criteria. Grip strength increased from 13.8 kg preoperatively to 20.3 kg postoperatively. Appositional pinch strength increased from 3.7 to 5.7 kg, while oppositional pinch strength also increased from 2.8 to 4.4 kg. Trapezial space ratio was well maintained at 0.36 postoperatively compared with 0.46 preoperatively at a mean radiographic follow-up of 2.2 years. Literature Review and Clinical Relevance  Results from our series demonstrate predictable outcomes with reduced pain levels, increased grip and pinch strengths, improved function, and preserved range of motion with few complications. Level of Evidence  III therapeutic. Trial Registration  Not applicable.

Non-stabilized fractures can be made at mandibular sites in mice, thus making it possible to analyze bone repair using an endochondral ossification mode. To most accurately reflect this process in vivo, it is necessary to have a standardized protocol to avoid excessive bone loss and soft tissue damage, particularly at the mandibular site, an anatomical site characterized by minimal access. To our knowledge, we describe for the first time a less-invasive protocol of non-stabilized mandibular fracture in mice. Adult mice are anesthetized with isoflurane and receive a preoperative dose of buprenorphine by subcutaneous injection. A submandibular approach is performed, with a skin incision made along the inferior border of the mandible. The masseter muscle is elevated in a subperiosteal plane along the mandibular ramus with a periosteal elevator. A vertical and complete fracture of the ramus is performed from the basilar border to the coronoid notch (between condylar and coronoid processes), using a piezoelectric bone surgery device under saline serum irrigation at the basilar edge and scissors to complete the fracture of the mandibular ramus. The skin approach is closed by silk sutures. This detailed procedure for non-stabilized mandibular fractures offers an efficient procedure allowing minimal bone loss and soft tissue damage. This technique ensures successful and consistent results to accurately reflect the process of endochondral bone repair in mouse models.

Two patients with thumb carpometacarpal instability were stabilized using a suture suspension device. Both patients had symptomatic thumb carpometacarpal instability in the setting of clinical hyperlaxity without known connective tissue disorder that was recalcitrant to nonsurgical modalities. Both patients had significant, lasting improvement in their pain and function with excellent radiographic outcomes. Suture suspension as a treatment for thumb carpometacarpal instability with an intact trapezium is an effective alternative to ligamentous reconstruction that avoids donor site morbidity and may have added benefit in patients with underlying ligamentous laxity.

Since it was described, wide-awake local anaesthesia no tourniquet (WALANT) has gained popularity. Our department has started using WALANT for hand surgery with increasing complexity. We present our results with WALANT rhizarthrosis surgery, including prosthetic replacement, trapeziectomy with suture button suspensionplasty and revision surgery. A retrospective review of all rhizarthrosis procedures under WALANT was performed from April 2021 to July 2022. We included patients who fulfilled inclusion criteria and had adequate imaging and clinical follow-up. A satisfaction survey was performed by telephone. Surgical time, complications, conversion to conventional anesthesia, pain, anxiety and global satisfaction were recorded. Tumescent anesthesia is performed 20-25 minutes before surgery, and is performed in four or five strategic locations that allow adequate anesthesia and vasoconstriction for the procedure to be comfortably carried out. We observed a series of 16 sequential surgeries involving 14 patients. All were female with a mean age of 65 years. Fourteen cases were performed due to primary rhizarthrosis, eight trapeziectomies with suture button suspensionplasty, six prosthetic replacements, and two revision surgeries. One patient needed to be converted to conventional anaesthesia due to anxiety during the procedure. Mean procedure time was 73 minutes. There were no WALANT-related complications. Mean patient-reported satisfaction with the anesthetic technique was a 9 (on a scale from 1 to 10) and 100% of patients would choose to undergo surgery with WALANT anesthesia for a future procedure. We find it useful to actively engage the patients during surgery to keep them comfortable and also help the surgeons assess stability and functional results. After wound closure, the hand is shown to the patient and he performs various tasks. There is somewhat of a learning curve for rhizarthrosis surgery under WALANT; patient comfort can be achieved through an adequate anesthetic technique and reassurance before and during surgery. We recommend that the first few cases be done in the presence of an anesthesiologist and a fasting patient in case there is a need to convert to conventional anesthesia. Wide awake rhizarthrosis surgery, even revision surgery, is safe and pain-free. Patient-reported satisfaction is also high. The authors find that including patient participation in their own surgery might be promising for post-op rehabilitation. There are limitations in this study such as the absence of a control conventional anesthesia group, the satisfaction questionnaire was not done immediately post-operatively, as such, a memory bias cannot be excluded, and it is not yet validated for the Portuguese population.

Craniosynostosis is characterized by the premature fusion and ossification of one or more of the sutures of the calvaria, often resulting in abnormal features of the face and the skull. In cases in which growth of the brain supersedes available space within the skull, developmental delay or cognitive impairment can occur. A complex interplay of different cell types and multiple signaling pathways are required for correct craniofacial development. In this study, we report on two siblings with craniosynostosis and a homozygous missense pathogenic variant within the IL11RA gene (c.919 T > C; p.W307R). The patients present with craniosynostosis, exophthalmos, delayed tooth eruption, mild platybasia, and a basilar invagination. The p.W307R variant is located within the arginine-tryptophan-zipper within the D3 domain of the IL-11R, a structural element known to be important for the stability of the cytokine receptor. Expression of IL-11R-W307R in cells shows impaired maturation of the IL-11R, no transport to the cell surface and intracellular retention. Accordingly, cells stably expressing IL-11R-W307R do not respond when stimulated with IL-11, arguing for a loss-of-function mutation. In summary, the IL-11R-W307R variant, reported here for the first time to our knowledge, is most likely the causative variant underlying craniosynostosis in these patients.

In this study we report a combination of anatomic variations in the neurocranium of an adult male skull. The skull is scanned using an industrial μCT system Nikon XT H 225. The cranial vault shows a persistent metopic suture, a remnant from the mendosal suture and supernumerary bones. Cranial base inspection reveals atlas occipitalisation (AO), basilar kyphosis, unusually shaped dorsum sellae and bilateral interclinoid bridging. AO is extensive without signs of atlantooccipital articulation. The anterior and posterior arches of the atlas and the right transverse process are fussed to the occipital bone above. The complete fusion of the posterior arch causes a formation of bone canals for the vertebral arteries passage into the cranium. AO in this case is not related to a reduction of the foramen magnum dimensions and clivus length.

Basal joint arthritis is commonly associated with attenuation of the volar structures at the thumb metacarpophalangeal (MCP) joint, leading to an initially dynamic, and eventually passive hyperextension deformity. In surgical treatment of basilar thumb disease, intervention at the MCP joint should also be considered to correct deformity and prevent persistent dysfunction. We present a novel technique using suture tape augmentation of the thumb MCP joint volar plate advancement and capsulodesis, with the goal of preventing recurrent instability as a result of tissue attenuation and enabling early functional recovery. We also report a representative case of a 66-year-old woman with symptomatic thumb carpometacarpal osteoarthritis and 50 degrees of MCP passive hyperextension. She underwent trapeziectomy and MCP joint volar plate advancement and capsulodesis with suture tape augmentation. Postoperatively, the patient underwent early mobilization of the affected thumb and at final follow-up of 2 years postsurgery had a painless thumb with full opposition and without hyperextension at the MCP joint during pinch maneuvers.

Basilar thumb arthritis is a debilitating condition characterized by pain, reduced joint stability, and reduced capacity for daily activities. Various arthroscopic approaches have been described based on patient factors, as well as radiographic and arthroscopic staging criteria. Here we provide an overview of arthroscopic management of basilar thumb arthritis, including patient evaluation, surgical techniques, outcomes, and new developments. We describe our preferred approach for Eaton stage I-III disease, consisting of arthroscopic hemitrapeziectomy with suture button suspensionplasty. This technique is safe, reliable, and allows for early range of motion and quicker recovery while minimizing scarring and reducing the risk of nerve injury.