Primordial dwarfism (PD) refers to a group of monogenic genetic disorders characterized by intrauterine growth restriction (IUGR) and severe, persistent postnatal growth retardation. These diseases have been associated with variants of multiple genes whose products are mainly involved in critical cellular biological processes such as maintenance of genomic stability, DNA damage repair, mRNA splicing regulation, and centrosome function. Variants of such genes can directly impair cell proliferation and developmental potential. With the widespread application of molecular genetic technologies such as high-throughput sequencing, significant progress has been made in the research of PD. This article focuses on the major subtypes of PD, including Seckel syndrome, Microcephalic osteodysplastic primordial dwarfism (MOPD) types I/III, MOPD type II, and Meier-Gorlin syndrome. It has systematically summarized the advances in their clinical phenotypic characteristics, pathogenic genes, and molecular mechanisms, with an aim to deepen the understanding of the essence of growth disorders associated with PD.
Humans ; Dwarfism/genetics* ; Microcephaly/genetics* ; Phenotype ; Fetal Growth Retardation/genetics* ; Osteochondrodysplasias/genetics* ; Growth Disorders ; Micrognathism ; Patella/abnormalities* ; Congenital Microtia

In comminuted patellar fractures, we performed modified tension band wiring using a FiberWire (Arthrex) instead of the conventional methods. From March 2016 to March 2018, 63 patients with patellar fractures who needed surgical treatment were treated with modified tension band wiring using two Kirschner wires (K-wires) and FiberWire. We inserted two 1.6-mm K-wires perpendicular to the fracture line after accurate reduction. With the knee flexed over 90°, we sutured around the patella using a FiberWire. Visual analog scale score and Levack's score were improved postoperatively. The mean bone union time was 5.6 months. None of the patients had breakage of wires, and nonunion with deformity occurred in one patient. We think that our method can be easier to handle and reduce irritation or breakage of the wires than conventional methods. In addition, early rehabilitation can be allowed. Therefore, we suggest that this method could be a useful method for the treatment of patellar fractures.
Bone Wires ; Congenital Abnormalities ; Humans ; Knee ; Methods ; Patella ; Rehabilitation ; Visual Analog Scale

PURPOSE: Restoring the native patellar thickness after patellar resurfacing provides optimal function of the knee after arthroplasty and minimises complications related to the patellofemoral articulation. The aim of this study was to assess the usefulness of a thin patellar button (6.2 mm) in patients with a patella thickness of less than 20 mm during total knee arthroplasty. MATERIALS AND METHODS: This is a retrospective case control study. A total of 54 female patients with an intraoperative patellar thickness of < 20 mm, resurfaced with a patellar button of 6.2 mm in thickness were identified (group 1). They were matched with 54 patients with a patellar thickness of 20–23 mm, resurfaced with a patellar button of 8 mm (group 2), based on age, sex, body mass index, and deformity. A clinical and radiological evaluation was done at a minimum 2-year follow-up. RESULTS: The preoperative mean patellar thickness was 18.94±1.07 mm and was restored to 19.06±0.79 mm in group 1, as compared to 21.63±0.99 mm and 21.72±0.99 mm in group 2. The mean postoperative range of motion was 122.22°±9.25° in group 1 and 123.52°±8.72° in group 2 (p=0.13). No patellar bone or button related complications were observed in any patient in either group. CONCLUSIONS: The 6.2 mm thin patella is useful to restore the native thickness in patients with a patellar thickness of less than 20 mm without risk of button fracture, loosening or overstuffing.
Arthroplasty ; Arthroplasty, Replacement, Knee ; Body Mass Index ; Case-Control Studies ; Congenital Abnormalities ; Female ; Follow-Up Studies ; Humans ; Knee ; Matched-Pair Analysis ; Patella ; Patellofemoral Joint ; Range of Motion, Articular ; Retrospective Studies

PURPOSE: High tibial valgus osteotomy (HTO) is a well-established surgical procedure for patients with medial compartment osteoarthritis (OA) of the knee. The hybrid closed-wedge HTO (CWHTO) procedure permits extensive correction in patients with severe deformities or patellofemoral joint OA. The aim of this study was to report the short-term results in a consecutive series of patients treated with hybrid CWHTO. MATERIALS AND METHODS: We retrospectively evaluated the clinical outcomes and radiographic parameters in 29 consecutive knees that underwent hybrid CWTHO to correct medial compartment OA at an average follow-up of 52.6 months. Clinical outcomes were assessed using the Lysholm score and knee scoring system of the Japanese Orthopedic Association (JOA). The Kellgren-Lawrence grading system and pre- and postoperative mechanical axis (MA), femorotibial angle (FTA), posterior tibial slope, and patella height were assessed. RESULTS: The FTA and MA significantly changed from 180.7° to 170.4° and from 22.0° to 60.2°, respectively. No significant differences were observed between the mean pre- and postoperative posterior tibial slope, Insall-Salvati ratio, or Caton-Deschamps index. The postoperative JOA and Lysholm scores significantly improved from 76.7 to 95.8 and from 58.8 to 90.2, respectively. CONCLUSIONS: Satisfactory outcomes can be achieved with hybrid CWHTO in patients with medial OA.
Asian Continental Ancestry Group ; Congenital Abnormalities ; Follow-Up Studies ; Humans ; Knee ; Orthopedics ; Osteoarthritis ; Osteotomy ; Patella ; Patellofemoral Joint ; Retrospective Studies

PURPOSE: To report a case of congenital glaucoma associated with nail-patella syndrome. CASE SUMMARY: A 20-day-old female was referred to our clinic for bilateral intraocular pressure (IOP) elevation and treatment of corneal opacities. Her IOP was 25 mmHg and 30 mmHg in the right and left eyes, respectively. After a diagnosis of congenital glaucoma, bilateral trabeculotomy was performed under general anesthesia. On the first postoperative day, the IOP was 12 mmHg in the right eye and 10 mmHg in the left eye, and remained stable thereafter. The infant was the second of fraternal twins (birth weight of 2.42 kg) and had no family history of any particular disease. During the regular checkup, she was referred to an orthopedic clinic for disorders of the elbow and knee. She presented with a dystrophic thumbnail, patella hypoplasia, elbow hypoplasia, and bilateral triangular protrusions of the lateral iliac crest (iliac horn). Based on the above findings, typical nail-patella syndrome was diagnosed and a mutation in the LMX1B gene was detected. CONCLUSIONS: If glaucoma patients have nail deformities or musculoskeletal abnormalities, nail-patella syndrome should be suspected and a multidisciplinary approach should be conducted.
Anesthesia, General ; Congenital Abnormalities ; Corneal Opacity ; Diagnosis ; Elbow ; Female ; Glaucoma ; Humans ; Infant ; Intraocular Pressure ; Knee ; Musculoskeletal Abnormalities ; Nail-Patella Syndrome ; Orthopedics ; Patella ; Trabeculectomy ; Twins, Dizygotic

OBJECTIVETo identify the genetic cause for a 11-year-old Chinese boy with Meier-Gorlin syndrome (MGS).

METHODSChromosomal microarray analysis (CMA) was used to detect potential variations, while whole exome sequencing (WES) was used to identify sequence variants. Sanger sequencing was used to confirm the suspected variants.

RESULTSThe boy has featured short stature, microtia, small patella, slender body build, craniofacial anomalies, and small testes with normal gonadotropin. A complete uniparental disomy of chromosome 16 was revealed by CMA. WES has identified a novel homozygous mutation c.67A>G (p.Lys23Glu) in ORC6 gene mapped to chromosome 16. As predicted by Alamut functional software, the mutation may affect the function of structural domain of the ORC6 protein.

CONCLUSIONThe patient is probably the first diagnosed MGS case in China, who carried a novel homozygous mutation of the ORC6 gene and uniparental disomy of chromosome 16. The effect of this novel mutation on the growth and development needs to be further investigated.

Base Sequence ; Child ; Chromosomes, Human, Pair 16 ; genetics ; Congenital Microtia ; genetics ; Family Health ; Fathers ; Growth Disorders ; genetics ; Heterozygote ; Humans ; Male ; Micrognathism ; genetics ; Mutation ; Origin Recognition Complex ; genetics ; Patella ; abnormalities ; Polymerase Chain Reaction ; methods ; Sequence Analysis, DNA ; methods ; Uniparental Disomy ; genetics

OBJECTIVE: To investigate the clinical effect of total knee arthroplasty on patients with knee osteoarthritis combined with mild to moderate valgus knee deformity.
 METHODS: A total of 15 patients received total knee arthroplasty for correcting mild (10°-15°) to moderate (15°-30°) valgus knee between January 2011 and February 2014 in Xiangya Hospital of Central South University. We adopted a stable prosthesis surgery through patellar medial approach, osteophytes cleaning, conventional osteotomy, a selective soft tissue release and balance technical correcting of knee valgus deformity. Then conventional anticoagulation and symptomatic rehabilitation was utilized. Preoperative and postoperative X-ray was conducted in patients with measuring femor-tibial angle (FTA) and inspecting the prosthesis position. FTA, visual analog scale (VAS) standard, and parallel knee scoring system (KSS) were used to evaluate the clinical effect.
 RESULTS: Fifteen patients were followed up for 14 to 36 (22.40±11.88) months. The hospitalization time was 7-13 (7.73±1.58) d; operative time was 58-110 (81.8±16.85) min, the dominant blood loss was 140-600 (337.30±143.65) mL. Two cases had knee extension hysteresis, and the knee activity recovered after exercise. Leg power lines were normal. Three postoperative cases suffered anterior knee pain. They were subjected to celecoxib analgesic treatment and the pain gradually eased after 3 months. One postoperative case showed incision discharge and swelling, which was healed after change of dressing. During follow-up, review of X-ray film does not show prosthesis loose, subsidence and other complications. The knee valgus angle (8.1±1.8)°, knee motion range (107.33±9.61)°, KSS knee score (74.7±14.5, 75.3±2.7) and pain score (2.5±0.9) were significantly better than the preoperative (P<0.05). The clinical and function KSS scores showed that the improvement rate was 80%. 
 CONCLUSION Total knee arthroplasty is an effective way to treat patients with knee osteoarthritis combined with mild to moderate valgus knee deformity. The correction of deformity and improvement of joint function can be achieved significantly. The clinical result is satisfactory and patients' quality of life is improved.
Arthroplasty, Replacement, Knee ; adverse effects ; methods ; Blood Loss, Surgical ; Humans ; Knee Joint ; abnormalities ; Knee Prosthesis ; Operative Time ; Osteoarthritis, Knee ; surgery ; Osteophyte ; surgery ; Osteotomy ; Pain, Postoperative ; therapy ; Patella ; surgery ; Quality of Life ; Tibia ; Treatment Outcome

PURPOSE: Soft tissue injuries of the patellar region are difficult problems because of insufficient arterial blood supply and lack of muscle. There have been many methods for reconstructing the soft tissue injuries of the patellar area such as primary closure, skin graft, muscle flap and free tissue transfer. However, each method has some limitations in their application. We used fasciocutaneous transposition flap according to limitations of patient's condition. METHODS: A 67-year-old-man was hospitalized by contact burn with TBSA 15% involving scalp, back, buttock, both legs. We found 20x30 cm2 sized eschar on right knee. We debrided necrotizing patella bone and found insufficient blood supply. In addition, general weakness, low weight (170 cm/42 kg), old age, DM made us to plan 2 staged operation. At first, coverage using medial fascio-cutaneous transposition flap. After 7 days, there were 1/4 necrosis by congestion. we used Vancomycin for systemic antibiotic treatments and betadine irrigation. 2 weeks after, We debrided necrotizing patella bone and coverage using lateral fascio-cutaneous transposition flap. RESULTS: There were no post-operative complications such as infection, hematoma, seroma or flap necrosis. And there was no contracture or contour deformity. CONCLUSION: Due to limitations of patient's condition, we used fasciocutaneous transposition flap instead of musculocutaneous flap or free flap. We gained satisfactory result by using fasciocutaneous flap in patella exposed wound reconstruction.
Burns* ; Buttocks ; Congenital Abnormalities ; Contracture ; Estrogens, Conjugated (USP) ; Free Tissue Flaps ; Hematoma ; Knee ; Leg ; Myocutaneous Flap ; Necrosis ; Patella* ; Povidone-Iodine ; Scalp ; Seroma ; Skin ; Soft Tissue Injuries ; Transplants ; Vancomycin ; Wounds and Injuries

Congenital dislocation of the patella is a rare clinical entity and is considered to result from a failure in internal rotation when the myotome develops, which forms the femur, the quadriceps muscle, and the extensor mechanism. Several authors have suggested various treatment methods, but there has been no consensus on treatment. A 12-year-old boy complained of knee pain and presented with a deformity due to bilateral congenital dislocation of the patella. The patient was treated with surgical management using the Stanisavljevic procedure. We report this case of congenital dislocation of the patella treated with this procedure that achieved a stable patellofemoral joint and satisfactory clinical results over 6.5 years of follow-up. In addition, we have included a review of the relevant medical literature.
Child ; Congenital Abnormalities ; Consensus ; Dislocations ; Femur ; Follow-Up Studies ; Humans ; Knee ; Patella ; Patellar Dislocation ; Patellofemoral Joint ; Quadriceps Muscle

Ehlers-Danlos Syndrome ; pathology ; Humans ; Lung ; abnormalities ; pathology ; Male ; Patella ; abnormalities