O\'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant genetic disorder caused by mutations in the KMT2E (lysine methyltransferase 2E) gene. The Third Xiangya Hospital of Central South University admitted a 12-year and 9-month-old male patient who presented with growth retardation, intellectual disability, and distinctive facial features. Peripheral blood was collected from the patient, and DNA was extracted for genetic testing. Chromosome karyotyping showed 46XY. Whole-exome sequencing and low-coverage massively parallel copy number variation sequencing (CNV-seq) revealed a 506 kb heterozygous deletion in the 7q22.3 region, which includes 6 genes, including KMT2E. The patient was diagnosed with ODLURO syndrome. Both the patient\'s parents and younger brother had normal clinical phenotypes and genetic test results, indicating that this deletion was a de novo mutation. The clinical and genetic characteristics of this case can help increase clinicians\' awareness of ODLURO syndrome.
O’Donnell-Luria-Rodan(ODLURO)综合征是KMT2E(lysine methyltransferase 2E)基因突变引起的常染色体显性遗传病。中南大学湘雅三医院收治1例表现为生长发育迟缓、智力低下、特殊面容的12岁9个月男性患儿，采集患者外周血，提取DNA进行基因检测，发现患儿染色体核型为46XY，全外显子组测序及低深度全基因组测序技术(low-coverage massively parallel copy number variation sequencing，CNV-seq)分析显示患儿在染色体7q 22.3区域存在506 kb的杂合性缺失，缺失区域包含KMT2E在内的6个基因，诊断为ODLURO综合征。其父母、弟弟临床表型及基因检测均无异常，提示该缺失为新发突变。此病例的临床和遗传特征有助于提高临床医师对ODLURO综合征的认识。.

Infantile systemic hyalinosis (ISH) is a very rare autosomal recessive disorder, which is characterized by a systemic build-up of hyaline material that causes extensive tissue destruction and functional impairment. The signs of this debilitating illness, which can involve organs, skin anomalies, and joint contractures, frequently appear in infancy. The paucity of available research on ISH emphasizes the need for all-encompassing management approaches to address the wide range of symptoms and enhance the overall quality of life for impacted babies. The interdisciplinary approach to ISH highlights the need for physiotherapy as a crucial element, with an emphasis on addressing the motor and developmental problems linked to the illness. Improving mobility and functional independence in newborns with ISH is facilitated by therapeutic exercises designed specifically for their needs. Here, we present a case of a six-month-old male child who visited a tertiary care center with complaints of minimal movements of all four limbs since birth with the inability to hold the neck. On examination, it was found that there were low-set ears with popular rashes and contractures over distal joints. Electromyography (EMG) and nerve conduction velocity (NCV) were done, which had abnormal findings suggestive of myopathy. On skin biopsy, it was confirmed that the child was suffering from ISH. Thus, the patient was referred to a physiotherapist. After six weeks of physiotherapy sessions, it was found that early and consistent physiotherapy interventions have been linked to a decrease in joint stiffness-related pain and discomfort, improving the affected infants\' general comfort. Furthermore, physiotherapy interventions have a crucial role in supporting adaptive methods to get around physical restrictions, making it easier for infants with ISH to reach developmental milestones that could otherwise be difficult. Although there is little research on the effects of physical therapy on infants with ISH, new data indicate that a proactive, tailored physical therapy program can greatly enhance the functional ability of impacted children, improve their overall quality of life, and avert further problems. It is crucial to incorporate physiotherapy into the comprehensive care of infants diagnosed with ISH. This highlights the significance of timely diagnosis, interdisciplinary cooperation, and continuous research aimed at improving and optimizing physiotherapeutic therapies for this uncommon and crippling genetic illness.

BACKGROUND: severe, rigid hip abduction deformity in individuals with cerebral palsy (CP) is an exceptionally uncommon condition. This posture hinders the positioning in the wheelchair and the completion of basic activities of daily living (ADL). Addressing such severe deformities can be quite challenging.
METHODS: a 14-year-old male, with spastic-dystonic quadriplegic CP, developed rigid and severe flexion-abduction contractures in both hips, characterized by 90 degrees of flexion and 100 degrees of abduction. These contractures severely impeded his ability to comfortably use a wheelchair and even pass through doorways. Performing basic ADLs became a significant challenge for both the patient and his caregivers.
RESULTS: the treatment approach involved a two-stage surgical procedure, one for each hip, with a two-month interval between them. An extensive release of the fascia latae, gluteus maximus, external rotators, and hip flexors; in combination with a proximal femur osteotomy were performed. To maintain the corrections achieved, long-leg casts connected with two bars were employed, followed by orthotic support and physiotherapy. Following the procedure, lower limb adduction was achieved, and the patient and caregivers were highly satisfied, as ADLs and basic caregiving had been greatly facilitated.
CONCLUSIONS: while the available literature on the management of severe rigid abduction hip contractures in non-ambulatory CP patients is limited, and treatment options are often complex, the present case underscores the effectiveness of a comprehensive approach involving soft tissue release and bone surgery. Achieving a more favorable wheelchair positioning and facilitating basic ADLs and care represents a significant success for patients and families.
UNASSIGNED: la deformidad severa y rígida en abducción de cadera en individuos con parálisis cerebral (PC) es una condición infrecuente. Esta postura dificulta el posicionamiento en la silla de ruedas y la realización de actividades básicas de la vida diaria (AVD). El tratamiento de estas deformidades tan severas puede ser todo un reto.
UNASSIGNED: varón de 14 años, con PC tetrapléjica espástica-distónica, que desarrolló contracturas rígidas y severas de flexión-abducción en ambas caderas, caracterizadas por 90 grados de flexión y 100 grados de abducción. Estas contracturas impedían gravemente su capacidad para utilizar cómodamente una silla de ruedas e incluso pasar por las puertas. La realización de actividades básicas de la vida diaria se convirtió en un reto importante tanto para el paciente como para sus cuidadores.
RESULTS: el tratamiento consistió en una intervención quirúrgica en dos fases, una para cada cadera, con un intervalo de dos meses entre ellas. Se realizó una amplia liberación de la fascia lata, el glúteo mayor, los rotadores externos y los flexores de la cadera; en combinación con una osteotomía proximal del fémur. Para mantener las correcciones conseguidas, se emplearon escayolas de pierna larga conectadas con dos barras, seguidas de soporte ortésico y fisioterapia. Tras la intervención, se consiguió la aducción de los miembros inferiores y el paciente y los cuidadores se mostraron muy satisfechos, ya que se habían facilitado en gran medida las AVD y los cuidados básicos.
CONCLUSIONS: aunque la bibliografía disponible sobre el tratamiento de las contracturas rígidas graves de la cadera en abducción en pacientes no deambulantes con PC es limitada, y las opciones de tratamiento suelen ser complejas, el presente caso subraya la eficacia de un enfoque integral que incluye la liberación de los tejidos blandos y la cirugía ósea. Conseguir una posición más favorable en la silla de ruedas y facilitar las AVD básicas y los cuidados representa un éxito significativo para los pacientes y sus familias.

BACKGROUND H syndrome is an autosomal recessive disorder of histiocytic proliferation with clinical spectrum of unique cutaneous and systemic manifestations. There is no consistent treatment for the disease, and all available options are based on case reports. Here, we present the chronological progression of a case of H syndrome with typical cutaneous manifestations that was misdiagnosed early as meningitis-induced sensorineural hearing loss and later as a non-defined autoimmune connective tissue disease. A new tried, although failed, treatment option is described as well. CASE REPORT A 31-year-old Saudi woman born of a consanguineous marriage presented to our dermatology clinic with symmetrical indurated hyperpigmented to violaceous plaques over the medial thighs, upper legs, lower back, volar wrists, and upper arms, associated with hypertrichosis. Hallux valgus of the big toes was clinically detected as well. She had a history of sensorineural deafness, diabetes mellitus, chronic anemia, and hypothyroidism. Genetic analysis of the patient showed a homozygous frameshift pathogenic variant of the SLC29A3 gene, c.243del p.(Lys81Asnfs*20). Systemic treatments in the form of methotrexate and imatinib had been tried; however, both failed to control her sclerotic cutaneous changes. CONCLUSIONS Knowing the early life presentation and the variable clinical symptoms of H syndrome is crucial in early intervention and further prevention of the non-reversible changes. Moreover, avoiding unnecessary immunosuppressive medication use is warranted in certain circumstances.

A 23-year-old man was admitted to our hospital with a one-year history of muscle weakness and atrophy. He had noticed contractures of the fingers of both hands from the age of 18. Examination revealed a skin rash including heliotrope rash and Gottron\'s sign, joint contractures in the extremities, dysphagia, extensive muscle weakness and marked muscle atrophy. The serum creatine kinase level was 272 ‍IU/l and muscle biopsy showed typical perifascicular atrophy but little lymphocyte invasion. There was no interstitial pneumonia or malignancy, but muscle tendons showed elevated CT values suggesting calcification or fibrosis. Anti-nuclear matrix protein 2 (NXP-2) antibody-positive dermatomyositis was diagnosed on the basis of the serum antibody level. Methylprednisolone pulse therapy ameliorated the skin rash and bulbar palsy, but muscle weakness, atrophy and joint contractures were resistant to the treatment. There have been no previous reports of young adults with anti-NXP-2 antibody-positive dermatomyositis in whom joint contracture became evident as early as 4 years beforehand, which is a important feature for differential diagnosis of dermatomyositis.

BACKGROUND: Bethlem Myopathy is a collagen VI-related myopathy presenting as a rare hereditary muscular disorder with progressive muscular weakness and joint contractures. Despite its milder clinical course relative to other myopathies, anaesthetic management can be challenging. High arched palates and fixed flexion deformities may contribute to a difficult airway. A progressive decline in pulmonary function can present later into adulthood. This respiratory decline can carry secondary cardiovascular consequences due to the progressive nature of restrictive lung disease, including right sided heart disease and pulmonary hypertension. We describe a case of a male patient with Bethlem Myopathy undergoing anaesthesia, to contribute to the limited body of literature on this condition and enhance awareness and guidance amongst anaesthesiologists on approaching patients with this condition. This is the first case report within the literature of its kind.
METHODS: This case details a 33-year-old male with Bethlem Myopathy undergoing tonsillectomy. Diagnosed in childhood following developmental delays, the patient had no prior anaesthetic exposure and no family history of anaesthetic complications. Anaesthetic induction was achieved without complications, avoiding depolarizing muscle relaxants and careful airway management. Extreme care was taken in patient positioning to prevent complications. The surgery proceeded without incident and muscle paralysis was reversed with Suggammadex, resulting in no adverse post-operative respiratory complications. The patient was discharged on the first post-operative day without any respiratory or cardiovascular compromise.
CONCLUSIONS: Bethlem Myopathy, while often exhibiting a mild clinical course, can present anaesthetic challenges. Awareness of potential complications including a difficult airway, cardiovascular and respiratory implications as well as the need for specialised monitoring and positioning is crucial to ensure a safe peri-operative course.

METHODS: A 13-year-old adolescent boy with hemiplegic cerebral palsy suffering from fixed knee flexion deformity of 10° despite extensive conservative treatment. Owing to a posterior tibial slope (PTS) of 16°, anterior hemiepiphysiodesis was applied to the proximal tibia. The 2 screws were removed after 9 months. Final follow-up at 16 months showed complete knee extension and a PTS of 4°.
CONCLUSIONS: The presented technique is a good alternative in knee flexion deformity with an increased PTS and has surprisingly not been described in the literature. This might be worth considering for other pathologies such as pediatric anterior cruciate ligament injury with an increased PTS.

Contracture of quadriceps femoris muscle is an uncommon condition in clinical practice. It was suggested that intramuscular injections into the thigh for children are sometimes the cause of this condition.
METHODS: The case presents a new surgical technique for the treatment of isolated rectus femoris muscle contracture. The patient is a 6- year-old boy complaining of external rotation of the left leg when he walks and inability to squat. Clinical examination showed positive Ely\'s test which indicated isolated rectus femoris muscle contracture. The patient underwent proximal lengthening of rectus femoris muscle.
CONCLUSIONS: Quadriceps femoris muscle contracture in children can be congenital or acquired. The identified causes of this case are multiple intramuscular injections, trauma or ischemia. The recommended treatment is proximal release in the early stage if contracture is diagnosed and distal lengthening of quadriceps tendon in the late stage. Surgical techniques that preserve continuity of the rectus femoris muscle have better outcomes, and give opportunity for second lengthening surgery if needed. This article presents a surgical technique of proximal rectus femoris muscle release that depends on using the length of the indirect head by transferring its attachment to the distal end of the direct head.
CONCLUSIONS: Quadriceps femoris contracture in children leads to limited knee flexion. Proximal release in the early stage gives excellent result. The technique used in this research gives an opportunity to restore knee flexion and a chance for second release if needed.

METHODS: This case series describes the clinical findings and surgical intervention of 86 declawed cats; 52 from a shelter or rescue and 34 owned cats. Historical reports from owners and shelter staff included house-soiling, biting behavior, repelling behavior, barbering, lameness, chronic digit infection and nail regrowth. All the cats had fragments of the third phalanx (P3) of varying sizes diagnosed on radiographs. Pathology visible on examination included digital subcutaneous swelling, ecchymosis, malaligned digital pads, ulcerations, exudate, tendon contracture, nail regrowth and callusing. Surgery was pursued in these cases to remove the P3 fragments, relieve tendon contracture and reposition the digital pads with an anchoring suture. Gross findings intraoperatively included fragmented growth of cornified and non-cornified nail tissue, osteophytes on the surface of the second phalanx, deep digital flexor tendon calcification, and both bacterial and sterile exudate. The most common complication 14 days postoperatively was mild (14%) to moderate (1%) lameness. All historical parameters recorded improved in both populations of cats (house-soiling, biting behavior, repelling behavior, barbering, lameness, tendon contracture and chronic digit infection). Postoperatively, 1/47 cats exhibited continued malalignment of two digital pads and there were no reports of long-term postoperative lameness.
CONCLUSIONS: Two methods of declawing cats are detailed in the veterinary literature, including partial amputation of P3 and disarticulation of the entire P3 bone. The novel information in this report includes historical and clinical signs of declawed cats with P3 fragments, intraoperative gross pathology, surgical intervention and the postoperative follow-up results.

Because the head and neck are one of the most frequent locations of burns, it is of paramount importance that plastic surgeons and plastic surgical nurses understand the most effective surgical methods for treating neck contractures and the reconstructive technique required for each case. We introduce the case of a 42-year-old woman who presented with a severe postburn neck contracture that was reconstructed with a pedicled occipito-cervico-dorsal flap. We closed the donor-site wound primarily and completely covered the defect with good results. In addition to conventional skin grafts, dermal matrices, and microsurgical techniques, using an occipito-cervico-dorsal flap should be considered for reconstructing postburn neck contractures as it offers good aesthetic and functional outcomes, provides enough tissue and pliable skin, and results in minimal donor-site morbidity.