Patient 1, a 3-year-6-month-old male, presented with feeding difficulties and delayed motor development. He exhibited poor responsiveness at birth, weak crying, intellectual and motor delays, low immunity, recurrent respiratory infections, hypotonia of the limbs, and distinctive facial features (low-set ears, double chin, and high arched palate), as well as a single transverse palmar crease on the right hand. Genetic testing revealed a c.1096C>T heterozygous variant in the SMARCB1 gene. Patient 2, a 3-year-old male, presented with developmental delay and distinctive facial features. Genetic testing identified the same pathogenic mutation as in Patient 1. The two patients are unrelated, and clinical phenotyping and genetic testing confirmed both cases as Coffin-Siris syndrome type 3. Coffin-Siris syndrome is a rare genetic disorder, and early genetic testing can aid in diagnosis.
Child, Preschool ; Humans ; Male ; Abnormalities, Multiple/genetics* ; Chromosomal Proteins, Non-Histone/genetics* ; Ear/abnormalities* ; Face/abnormalities* ; Hand Deformities, Congenital/genetics* ; Intellectual Disability/genetics* ; Micrognathism/genetics* ; Mutation ; Neck/abnormalities*

Objective:This aims to investigate the diagnostic and evaluative value of MRI for lymphatic malformations in the head, neck, and facial regions of children. Methods:A retrospective analysis was conducted on the MRI imaging data of 31 cases of head, neck, and facial lymphatic malformations in children admitted to the Department of Otolaryngology, Head and Neck Surgery, Children's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, from January 2022 to January 2024. Results:The MRI images of this group of cases primarily displayed irregular morphology（80.6%, 25/31）, thin-walled cysts（80.6%, 25/31）, and compression of surrounding tissues. The boundaries were clear（100%, 31/31）, with characteristics of invasive and drill-like growth（93.5%）. The cyst walls or internal septa exhibited high signal intensity on T1WI, low signal intensity on T2WI, and mild to moderate enhancement（100%）. The contents of the cysts showed low signal intensity on T1WI, high signal intensity on T2WI, and no enhancement（35.5%, 11/31）. Mixed signals with varying degrees of enhancement were observed in 20 cases（64.5%）. There were 29 cases of multilocular cysts（93.5%, 29/31）, and 11 cases of fluid-fluid levels（35.5%）. The MRI diagnostic accuracy for this group of cases was 100%. Conclusion:Lymphatic Malformations of head, neck and facial region in children have very characteristic features on MRI, such as typical thin wall, clear boundaries, irregular shapes, invasive growth, no enhancement, multilocular cystic masses, fluid-fluid level, etc. Furthermore, it is more appropriate for children with lymphatic malformations owing to its non-radiation and non-invasive benefits. Diagnosing lymphatic malformations in the head, neck, and facial region in children should begin with this.
Humans ; Retrospective Studies ; Lymphatic Abnormalities/diagnostic imaging* ; Magnetic Resonance Imaging ; Neck/diagnostic imaging* ; Head/diagnostic imaging* ; Face/diagnostic imaging* ; Child ; Male ; Female ; Child, Preschool ; Adolescent ; Infant

OBJECTIVE: To explore the genetic basis for two Chinese pedigrees affected with Coffin-Siris syndrome (CSS). METHODS: Whole exome sequencing (WES) was carried out for the probands. Candidate variants were verified by Sanger sequencing of the probands and their family members. RESULTS: The two probands were respectively found to harbor a heterozygous c.5467delG (p.Gly1823fs) variant and a heterozygous c.5584delA (p.Lys1862fs) variant of the ARID1B gene, which were both of de novo in origin and unreported previously. Based on the guidelines of American College of Medical Genetics and Genomics, both variants were predicted to be pathogenic (PVS1+PS2+PM2). CONCLUSION The c.5467delG (p.Gly1823fs) and c.5545delA (p.Lys1849fs) variants of the ARID1B genes probably underlay the CSS in the two probands. Above results have enabled genetic counselling and prenatal diagnosis for the pedigrees.
Abnormalities, Multiple ; China ; DNA-Binding Proteins/genetics* ; Face/abnormalities* ; Hand Deformities, Congenital ; Humans ; Intellectual Disability ; Micrognathism ; Neck/abnormalities* ; Pedigree ; Transcription Factors/genetics*

OBJECTIVE: To explore the genetic basis for two unrelated patients with global developmental delay and coarse facial features. METHODS: Clinical data and family history of the two pedigrees were collected. Whole exome sequencing and Sanger sequencing were carried out to detect potential variants. RESULTS: The two patients have presented with global developmental delay, coarse facies, muscular hypotonia, congenital heart disease, and pectus excavatum, and were found to harbor two de novo loss-of-function variants of the ARID1B gene, namely c.3586delC (p.Gln1196Serfs*15) and c.4954_4957delACGT (p.Thr1652Glyfs*31). Both variants were unreported previously. CONCLUSION The nonsense variants of the ARID1B gene probably underlay the etiology in these patients. Above finding has enriched the genotypic and phenotypic spectrum of the disease and provided a basis for prenatal diagnosis.
Abnormalities, Multiple ; China ; DNA-Binding Proteins/genetics* ; Face/abnormalities* ; Facies ; Hand Deformities, Congenital/genetics* ; Humans ; Intellectual Disability/genetics* ; Micrognathism/genetics* ; Neck/abnormalities* ; Transcription Factors/genetics*

Proximal humerus fracture can be defined as a fracture that occurs in the surgical neck or proximal part of the humerus. Despite the appropriate treatment, however, various complications and sequelae can occur, and the treatment is quite difficult often requiring surgical treatment, such as a shoulder replacement. The classification of sequelae after a proximal humerus fracture is most commonly used by Boileau and can be divided into two categories and four types. Category I is an intracapsular impacted fracture that is not accompanied by important distortions between the tuberosities and humeral head. An anatomic prosthesis can be used without greater tuberosity osteotomy. In category I, there are type 1 with cephalic collapse or necrosis with minimal tuberosity malunion and type 2 related to locked dislocation or fracture-dislocation. Category II is an extracapsular dis-impacted fracture with gross distortion between the tuberosities and the humeral head. To perform an anatomic prosthesis, a tuberosity osteotomy should be performed. In category II, there are type 3 with nonunion of the surgical neck and type 4 with severe tuberosity malunion. In type 1, non-constrained arthroplasty (NCA) without a tuberosity osteotomy should be considered as a treatment. On the other hand, reverse shoulder arthroplasty (RSA) should be considered if types 1C or 1D accompanied by valgus or varus deformity or severe fatty degeneration of the rotator cuff. In general, the results are satisfactory when NCA is performed in type 2 sequelae. On the other hand, RSA can be considered as an option when there is no bony defect of the glenoid and a defect of the rotator cuff is accompanied. In type 3, it would be effective to perform internal fixation with a bone wedge graft rather than shoulder replacement arthroplasty. Recent reports on the results of RSA are also increasing. On the other hand, recent reports suggest that good results are obtained with RSA in type 3. In type 4, RSA should be considered as a first option.
Arthroplasty ; Arthroplasty, Replacement ; Classification ; Congenital Abnormalities ; Dislocations ; Hand ; Humeral Head ; Humerus ; Neck ; Necrosis ; Osteotomy ; Postoperative Complications ; Prostheses and Implants ; Rotator Cuff ; Shoulder Fractures ; Shoulder ; Transplants

Cervical kyphosis is a rare condition that can cause significant functional disability and myelopathy. Deciding the appropriate treatment for such deformities is challenging for the surgeon. Patients often present with axial neck pain, and it is not uncommon to find coexisting radiculopathy or myelopathy. The optimal approach for addressing this complex issue remains controversial. A comprehensive surgical plan based on knowledge of the pathology and biomechanics is important for kyphosis correction. Here we reviewed diagnoses of the cervical spine along with the literature pertaining to various approaches and management of cervical spine.
Congenital Abnormalities ; Diagnosis ; Humans ; Kyphosis ; Neck Pain ; Pathology ; Radiculopathy ; Spinal Cord Diseases ; Spine

Klippel-Feil syndrome is characterized by congenital fusion of two or more cervical vertebrae, a low hair line at the back of the head, restricted neck mobility, and other congenital anomalies. We report a 16-year-old young man with Klippel-Feil syndrome, Sprengel deformity of the right scapula, thoracic kyphoscoliosis, and mandibular prognathism with an anterior open bite. He was treated with orthodontic treatment and maxillofacial surgery. An anticipated difficult airway due to a short neck with restricted neck movements and extrinsic restrictive lung disease due to severe thoracic kyphoscoliosis increased his anesthesia risk. Due to his deviated nasal septum and contralateral inferior turbinate hypertrophy, we chose awake fiber optic orotracheal intubation followed by submental intubation. Considering the cervical vertebral fusion, he was carefully positioned during surgery to avoid potential spinal injury. He recovered well and his postoperative course was uneventful.
Adolescent ; Anesthesia ; Cervical Vertebrae ; Congenital Abnormalities ; Female ; Genioplasty ; Hair ; Head ; Humans ; Hypertrophy ; Intubation ; Klippel-Feil Syndrome ; Lung Diseases ; Mandible ; Nasal Septum ; Neck ; Open Bite ; Orthognathic Surgery ; Osteotomy ; Prognathism ; Scapula ; Spinal Injuries ; Surgery, Oral ; Turbinates

Trauma, congenital malformation and aging process can be a cause of the deviation of laryngeal prominence in the thyroid cartilage. Among these, the senility is the most common cause. Usually, ossification in the thyroid cartilage has occurred symmetrically, but the asymmetrical event leads to the shift of laryngeal prominence. Also, such deformity can provoke protrusion of false vocal fold. A 75-year-old man with hoarseness and globus sense in throat visited our clinic. Five years ago, he experienced a blunt trauma on left midline neck and had a concave deformity in the left thyroid cartilage lamina. Laryngoscopic findings revealed a marked protrusion in the left false vocal fold. We performed the laryngeal microsurgery to discriminate the tumorous condition. The pathology revealed non-pathologic mucosa. We report a unique and didactic case with a brief literature review.
Aged ; Aging ; Congenital Abnormalities ; Hoarseness ; Humans ; Microsurgery ; Mucous Membrane ; Neck ; Pathology ; Pharynx ; Thyroid Cartilage ; Thyroid Gland ; Vocal Cords

PURPOSE: Femoroacetabular impingement (FAI) is considered an important cause of early degenerative arthritis development. Although three-dimensional (3D) imaging such as computed tomography (CT) and magnetic resonance imaging are considered precise imaging modalities for 3D morphology of FAI, they are associated with several limitations when used in out-patient clinics. The paucity of FAI morphologic data in Koreans makes it difficult to select the most effective radiographical method when screening for general orthopedic problems. We postulate that there might be an individual variation in the distribution of cam deformity in the asymptomatic Korean population. MATERIALS AND METHODS: From January 2011 to December 2015, CT images of the hips of 100 subjects without any history of hip joint ailments were evaluated. A computer program which generates 3D models from CT scans was used to provide sectional images which cross the central axis of the femoral head and neck. Alpha angles were measured in each sectional images. Alpha angles above 55° were regarded as cam deformity. RESULTS: The mean alpha angle was 43.5°, range 34.7–56.1°(3 o'clock); 51.24°, range 39.5–58.8°(2 o'clock); 52.45°, range 43.3–65.5°(1 o'clock); 44.09°, range 36.8–49.8°(12 o'clock); 40.71, range 33.5–45.8°(11 o'clock); and 39.21°, range 34.1–44.6°(10 o'clock). Alpha angle in 1 and 2 o'clock was significantly larger than other locations (P < 0.01). The prevalence of cam deformity was 18.0% and 19.0% in 1 and 2 o'clock, respectively. CONCLUSION: Cam deformity of FAI was observed in 31% of asymptomatic hips. The most common region of cam deformity was antero-superior area of femoral head-neck junction (1 and 2 o'clock).
Adult ; Congenital Abnormalities ; Femoracetabular Impingement ; Femur ; Head ; Hip Joint ; Hip ; Humans ; Magnetic Resonance Imaging ; Mass Screening ; Methods ; Neck ; Orthopedics ; Osteoarthritis ; Outpatients ; Prevalence ; Tomography, X-Ray Computed

Patients with Klippel-Feil syndrome require much attention during anesthesia because of congenital abnormalities in head and neck regions and the high probability of neurological damage from cervical spine instability during endotracheal intubation. We report a case of successful endotracheal intubation using a videolaryngoscope in a patient with Klippel-Feil syndrome who experienced difficult transnasal intubation.
Anesthesia ; Congenital Abnormalities ; Head ; Humans ; Intubation ; Intubation, Intratracheal* ; Klippel-Feil Syndrome* ; Laryngoscopes ; Neck ; Spine