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*

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

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

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

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

OBJECTIVE: To find factors affecting hip and femoral deformities in children with spastic cerebral palsy (CP) by comparing various clinical findings with imaging studies including plain radiography and computed tomography (CT) imaging. METHODS: Medical records of 709 children with spastic CP who underwent thorough baseline physical examination and functional assessment between 2 to 6 years old were retrospectively reviewed. Fifty-seven children (31 boys and 26 girls) who had both plain radiography of the hip and three-dimensional CT of the lower extremities at least 5 years after baseline examination were included in this study. RESULTS: The mean age at physical examination was 3.6 years (SD=1.6; range, 2–5.2 years) and the duration of follow-up imaging after baseline examination was 68.4 months (SD=22.0; range, 60–124 months). The migration percentage correlated with motor impairment and the severity of hip adductor spasticity (R1 angle of hip abduction with knee flexion). The femoral neck and shaft angle correlated with the ambulation ability and severity of hip adductor spasticity (R1 and R2 angles of hip abduction with both knee flexion and extension). CONCLUSION: Hip subluxation and coxa valga deformity correlated with both dynamic spasticity and shortening of hip adductor muscles. However, we found no correlation between femoral deformities such as femoral anteversion, coxa valga, and hip subluxation.
Bone Anteversion ; Cerebral Palsy* ; Child* ; Congenital Abnormalities* ; Coxa Valga ; Femur Neck ; Follow-Up Studies ; Hip Dislocation ; Hip* ; Humans ; Knee ; Lower Extremity ; Medical Records ; Muscle Spasticity* ; Muscles ; Physical Examination ; Radiography ; Retrospective Studies ; Walking

Breast deformity, in post-burn patients, is a common problem leading to lower self-esteem and reclusive behavior that impairs quality of life. The authors present the course of treatment of an 18-year-old immigrant girl who suffered second- to third-degree burns over approximately 20% of her total body surface area in her early childhood. The second- to third-degree burns were located on her right trunk and abdomen, as well as her right shoulder, neck, and right groin area. Since it was not offered in her home country, reconstructive surgery, including microsurgical breast reconstruction, was sought abroad. Due to the lack of available skin and soft tissue, a bilateral breast reconstruction with free transverse myocutaneous gracilis flaps was offered. This case illustrates one method of using microsurgery to address post-burn breast deformities in order to alleviate psychological suffering and improve quality of life.
Abdomen ; Adolescent ; Body Surface Area ; Breast* ; Burns* ; Congenital Abnormalities ; Emigrants and Immigrants ; Female ; Groin ; Humans ; Mammaplasty* ; Methods ; Microsurgery ; Neck ; Quality of Life ; Shoulder ; Skin

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