Congenital deformity

INTRODUCTION: Although multimodal intraoperative neuromonitoring (IONM), which has high sensitivity and specificity, is typically performed during spinal deformity surgery, neurological status may deteriorate with delay after surgical maneuvers. Here, we report a rare case of delayed postoperative neurological deficit (DPND) that was not detected by IONM during posterior spinal fusion (PSF) for congenital scoliosis. CASE PRESENTATION: A 14-year-old male presented with congenital scoliosis associated with T3 and T10 hemivertebrae...

INTRODUCTION: A supernumerary nostril is one of the rarest congenital nasal abnormalities. Recently we encountered a 16-months-old patient with 3 supernumerary nostrils that was located at left side of the nose and performed an operation on this case. We reported a rare case of three supernumerary nostril located at left side of the nose. CASE PRESENTATION: A 14-month-old male baby was referred to our clinic for assessment of a nose deformity. Physical examination revealed an asymmetrical ala of nose with 3 supernumerary nostrils at left side and a normal right nostril...

BACKGROUND: Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, spinal/skeletal anomalies, and/or scoliosis (CLOVES) syndrome is the most recently described combined vascular anomaly characterized by congenital excessive growth of adipose tissue, vascular malformations, epidermal nevi, and skeletal deformities. This condition exhibits a significant variability in clinical manifestations and a tendency for rapid progression and affects extensive anatomical regions...

BACKGROUND: Auriculocondylar syndrome (ARCND) is a rare congenital craniofacial developmental malformation syndrome of the first and second pharyngeal arches with external ear malformation at the junction between the lobe and helix, micromaxillary malformation, and mandibular condylar hypoplasia. Four subtypes of ARCND have been described so far, that is, ARCND1 (OMIM # 602483), ARCND2 (ARCND2A, OMIM # 614669; ARCND2B, OMIM # 620458), ARCND3 (OMIM # 615706), and ARCND4 (OMIM # 620457)...

INTRODUCTION: Popliteal pterygium syndrome is a rare congenital disorder characterized by orofacial, cutaneous, musculoskeletal, and genital anomalies. The popliteal pterygium (PP) affects ambulation due to severe knee flexion contracture and equinovarus deformities. Surgical treatment aims to correct these deformities while preserving limb sensibility. However, due to its rarity, surgical guidelines are lacking. MATERIALS AND METHODS: A meta-analysis according to PRISMA guidelines was conducted to summarize and compare surgical methods for PP...

Tessier No. 7 cleft, known as lateral facial cleft, is a rare and understudied entity with an incidence of 1/80,000-1/300,000 live births. Besides perioral tissue abnormalities manifesting as macrostomia, Tessier 7 cleft also involves anomalies of the underlying bony structures. It can appear as part of a syndrome, such as Treacher-Collins syndrome or Goldenhar/Orbito-Auriculo-Vestibular Spectrum, or as an isolated form (unilateral or bilateral) with variable expressions. Bilateral maxillary duplication in Tessier 7 cleft is considered extremely rare, accounting for only two previously presented cases...

BACKGROUND: Madelung's deformity is a congenital or acquired growth disorder of the forearm that can lead to significant impairments in the quality of life of affected patients. Various surgical treatment options for the condition have been described in the literature. This study aimed to investigate whether physiolysis with resection of the Vickers ligament can successfully halt the progression of the disease in a cohort of young patients, as would be expected based on existing literature on this topic...

CASE: A 38-year-old man with congenital pain insensitivity underwent bilateral below-knee amputations. After his subsequent bilateral osseointegration (OI) limb replacements, he rapidly developed severe bilateral knee arthritis and varus deformity. In lieu of performing bilateral above-knee amputations, he underwent bilateral staged total knee arthroplasties (TKA) with excellent clinical and radiographic evaluation at 1-year follow-up. CONCLUSION: To address both the limited bone stock and OI implant stem location, TKA after OI limb replacement in congenital pain insensitivity patients can be successfully achieved with a nonkeeled cementless tibial component and augmentation with a tibial cone...

BACKGROUND: Congenital maxillomandibular fusion is a rare disorder. Maxillomandibular fusion is usually discovered immediately after birth because the newborn is unable to open mouth or feed normally. The fusion defects can present with a wide range of severity, ranging from mucosal band (synechiae) to complete bony fusion (syngnathia). CASE DESCRIPTION: We report a case of congenital alveolar synechiae with posterior cleft palate in a 3-day-old male neonate. The newborn was managed with the help of a multi-disciplinary approach...

BACKGROUND: Congenital ear anomalies are regular but often overlooked occurrences. The golden standard of treatment has been to surgically correct these anomalies at a minimum age of 5 to 7 years. As of the last century, ear molding has developed to be a safe, reliable, and effective treatment method. Different treatment methods are still under investigation. This study aims to investigate the use of the EarWell Infant Corrective System in the Dutch population. METHODS: Children aged 0-12 weeks were included in the Zuyderland Medical Center to be treated with the EarWell Infant Corrective System in case of ear deformations...

PURPOSE: Congenital contractural arachnodactyly (CCA) is an extremely rare autosomal dominant connective tissue genetic disorder caused by pathogenic variants in FBN2. CCA is characterized by arachnodactyly, camptodactyly, contracture of major joints, scoliosis, pectus deformities, and crumpled ears, but rarely with lethal cardiovascular manifestations as in Marfan syndrome. It is imperative to conduct a comprehensive analysis and review of the pathogenesis of CCA resulting from pathogenic variants in FBN2 gene...

Tissue expansion is a handy reconstructive technique for the head and neck region; however, its implementation requires careful planning and surgical experience. If tissue expansion is inadequate, forced closure results in wound tension and risks complications, such as postoperative deformity, wide scarring, and wound dehiscence. We report a case of adult forehead melanocytic nevus excision using a tissue expander (TE) where complications caused by insufficient tissue expansion were avoided by creating a flap using a dog ear...

Ulnar ray deficiency is a rare congenital upper limb defect. We report on a unique case with hand-on-flank deformity on the one side and limb truncation on the contralateral side. The standard of care for the hand-on-flank deformity is to do humerus osteotomy to reposition the hand anteriorly. However, the right limb truncation in our patient made the senior author decide not to do the osteotomy. Final assessment showed that the posterior hand position enabled the patient to reach the ano-genital areas, the pocket, and the mouth...

BACKGROUND: Congenital pseudarthrosis of the tibia (CPT) is a rare disease. CPT is often unilateral and occurs between the middle and distal third of the tibia. Concurrent involvement of the fibula is present in more than half of cases. histologic studies indicate the presence of fibrous hamartoma tissue and a sick periosteum, which leads to recalcitrant bone fracture and, eventually, pseudoarthrosis. Although there are various surgical techniques, we intend to compare the 2 methods of external fixation versus internal plating...

PURPOSE: Congenital posteromedial bowing (CPMB) of tibia is a rare, usually self-resolving condition that is present at birth. The data on the long-term outcome of lengthening, choice of fixator, outcome in early and late age groups, and complications is sparse, hence the need for this study. METHODS: This retrospective study included 93 patients with 94 affected legs from 1991 to 2023. The patients were categorized into early (under 10 years) and late (10 years or above) intervention groups...

De novo germline variants of the SRY-related HMG-box 11 gene (SOX11) have been reported to cause Coffin-Siris syndrome-9 (CSS-9), a rare congenital disorder associated with multiple organ malformations, including ear anomalies. Previous clinical and animal studies have found that intragenic pathogenic variant or haploinsufficiency in the SOX11 gene could cause inner ear malformation, but no studies to date have documented the external ear malformation caused by SOX11 deficiency. Here, we reported a Chinese male with unilateral microtia and bilateral sensorineural deafness who showed CSS-like manifestations, including dysmorphic facial features, impaired neurodevelopment, and fingers/toes malformations...

BACKGROUND: Bruck syndrome (BS) is an extremely rare autosomal-recessive connective tissue disorder mainly characterized by bone fragility, congenital joint contracture, and spinal deformity. It is also considered as a rare form of osteogenesis imperfecta (OI) due to features of osteopenia and fragility fractures. Its two forms, BS1 and BS2, are caused by pathogenic variations in FKBP10 and PLOD2 , respectively. OBJECTIVE: We aimed to improve the clinical understanding of BS by presenting a case from China and to identify the genetic variants that led to this case...

Microtia-atresia is a congenital deformity affecting the external ear and ear canal that can present with varying degrees of severity and morbidity. Treatment occurs along a spectrum and primarily centers on improving aesthetic appearance. Many cases of microtia will not be effectively treated with conservative measures and will require some form of reconstruction. There are several options available, including porous polyethylene implants, autologous rib grafting, and autologous chondrocyte frameworks. Equally significant is the treatment of hearing loss, as many patients with microtia-atresia will have a component of conductive hearing loss...

Congenital pseudarthrosis of the tibia (CPT) is a rare disorder affecting the skeletal system in pediatric population with an estimated incidence of 1:140,000 to 1:250,000 newborns. It is characterized by deformity of the tibia, including anterolateral bowing of the bone diaphysis and/or narrowing of the medullary canal, leading to instability or fracture. CPT can be either idiopathic or associated with underlying conditions such as type 1 neurofibromatosis (NF1), fibrous dysplasia, or Campanacci's osteofibrous dysplasia...

Chest wall deformities are congenital disorders characterized by abnormal development and appearance of the thoracic wall. The most common form is the pectus excavatum deformity, known as shoemaker's chest. Pectus carinatum, known as pigeon chest, is the second most common deformity. In general, most patients are asymptomatic, but cardiopulmonary problems may accompany the disease. The indication for treatment is mostly cosmetic. Treating patients before they reach adulthood increases the chance of success...