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Journal of Pediatric Surgery Aug 1989In 1841, Poland described congenital deficiency of the pectoralis major and minor muscles associated with syndactyly. This syndrome is a spectrum, often involving chest...
In 1841, Poland described congenital deficiency of the pectoralis major and minor muscles associated with syndactyly. This syndrome is a spectrum, often involving chest wall and breast deformity as well. Identification of the various musculoskeletal components involved permits optimal thoracic reconstruction in the small proportion of patients who will require it. From 1955 to 1988, 75 patients (40 males and 35 females) with Poland's syndrome were treated or evaluated. Patients with isolated deficiencies of the pectoral muscles, breast, or hand deformity were excluded. The complex was right-sided in 44 patients, left-sided in 30, and bilateral in one. The pectoralis minor and the costal portion of the pectoralis major muscle were absent in all patients. Hand anomalies were present in 50 patients. Athelia and/or amastia were noted in 37 patients. In ten patients, the rib cage deformity required reconstruction, and in three cases, rib or cartilage grafts were needed for complete repair. Often unappreciated in these cases is the significant rotation of the sternum toward the involved side and contralateral carinate deformity. Correction is achieved by bilateral subperichondrial costal cartilage resection and sternal osteotomy (seven of ten patients), thus allowing anterior displacement and orthorotation of the sternum. Chest wall reconstruction must be tailored to the requirements of each patient. No intraoperative or postoperative complications occurred in these ten patients. In males without rib cage deformity, generally no treatment is required to replace the absent pectoral muscles, although in two cases rotation of the latissimus dorsi muscle was performed. In all females, reconstruction of the ipsilateral breast is required at full development.(ABSTRACT TRUNCATED AT 250 WORDS)
Topics: Abnormalities, Multiple; Adolescent; Breast; Female; Hand Deformities, Congenital; Humans; Male; Medical Illustration; Methods; Poland Syndrome; Syndactyly
PubMed: 2549232
DOI: 10.1016/s0022-3468(89)80532-9 -
The Journal of Bone and Joint Surgery.... Apr 1991The records of all thirteen patients for whom a diagnosis of cloacal exstrophy had been recorded in our hospitals were analyzed for evidence of musculoskeletal problems....
The records of all thirteen patients for whom a diagnosis of cloacal exstrophy had been recorded in our hospitals were analyzed for evidence of musculoskeletal problems. All thirteen patients had spina bifida, four had congenital scoliosis, two had congenital kyphosis, and three had non-congenital scoliosis. All had a lipomeningocele, and eleven had paralysis of the lower extremities. Hydrocephalus and its associated problems were not found, but tethered-cord syndrome was diagnosed in eleven patients. Persistent diastasis of the symphysis pubis was found in all patients. Abduction and external rotation of the hips were more than normal. Mild dysplasia was seen in six of the twenty-six hips. Deformities of the foot were common, and twelve feet had been operated on for correction. Recurrent equinovarus deformity of the foot was associated with tethered-cord syndrome in two patients.
Topics: Abnormalities, Multiple; Adolescent; Adult; Child; Child, Preschool; Cloaca; Female; Humans; Infant; Kidney; Leg; Male; Musculoskeletal Abnormalities; Neural Tube Defects; Pelvis; Retrospective Studies; Spine
PubMed: 2013594
DOI: No ID Found -
The Journal of the Oklahoma State... Dec 1994Hypoplastic thumb is a short, underdeveloped thumb with deficient or absent intrinsic muscles with or without deficient extrinsic musculotendinous structures. Thumb... (Review)
Review
Hypoplastic thumb is a short, underdeveloped thumb with deficient or absent intrinsic muscles with or without deficient extrinsic musculotendinous structures. Thumb hypoplasia is a common congenital abnormality with five types of increasing severity. This abnormality may be associated with local musculoskeletal deficiencies or systemic diseases and syndromes. In severe cases, basic hand function, including pinch and grasp, may be adversely affected. A variety of operative reconstructive procedures can provide thumb stability, and improve motor control and overall hand function.
Topics: Congenital Abnormalities; Humans; Infant, Newborn; Surgical Flaps; Thumb
PubMed: 7837006
DOI: No ID Found -
Journal of Orthopaedic Surgery and... Dec 2020Fibrous dysplasia (FD) is a rare bone disorder in which normal intramedullary bone is replaced by fibro-osseous tissue, which is complicated by the progression of...
BACKGROUND
Fibrous dysplasia (FD) is a rare bone disorder in which normal intramedullary bone is replaced by fibro-osseous tissue, which is complicated by the progression of Shepherd's crook deformity. How to predict the progression of Shepherd's crook deformity is still a challenging for the orthopedic surgeon.
METHODS
A total of 159 cases were reviewed in the retrospective study between January 2000 and September 2016. Clinical and monitoring data were collected. We analyzed the correlationship between the bone turnover markers and other parameters (age, gender, FD type, deformity, BMI, and lesion location).
RESULTS
Age, gender, lesion location, lesion type, and shepherd's crook deformity had a close relationship with preoperative ALP level in the univariate analysis, and the multivariate analysis showed age, gender, lesion type, and shepherd's crook deformity had the significant relationship with the preoperative serum ALP level. The surgery could remove the bone lesion and suppressed the abnormal bone metabolism. Furthermore, the preoperative ALP level of FD patients with the shepherd's crook deformity was obviously higher than that without deformity, and the preoperative calcium and phosphorus levels of FD patients with deformity were significantly lower than that without deformity. Notably, for some patients with progression of the shepherd's crook deformity during the follow-up, ALP increased to the high level and at that time X-ray showed the shepherd's crook deformity severely progressing.
CONCLUSIONS
PFD with higher serum ALP level has obvious tendency to progress severely, and risk factors of progression to the deformity are the condition of bony metabolism and FD type. The deformity of PFD may be related to high speed of bone turnover, which is exactly reflected by the levels of serum ALP and calcium. Evaluation of patients with FD should include a thorough evaluation of calcium/phosphate metabolism and bone turnover.
Topics: Adolescent; Alkaline Phosphatase; Biomarkers; Bone Remodeling; Bone and Bones; Calcium; Congenital Abnormalities; Disease Progression; Female; Fibrous Dysplasia, Polyostotic; Humans; Male; Phosphates; Retrospective Studies; Risk Factors; Severity of Illness Index
PubMed: 33272306
DOI: 10.1186/s13018-020-02073-y -
Spine Sep 2020A retrospective, case series.
STUDY DESIGN
A retrospective, case series.
OBJECTIVE
The aim of this study is to evaluate the concomitant anomalies in patients with Sprengel deformity (SD).
SUMMARY OF BACKGROUND DATA
SD is the most common congenital anomaly of the shoulder. One or more associated anomalies may coexist in SD patients, similar to congenital scoliosis (CS); however, these anomalies and their relationship have not been studied in detail previously.
METHODS
SD patients who have applied to our institution between 2005 and 2019 were retrospectively reviewed. The patients were evaluated clinically and radiologically. The patients were divided in two groups as SD patients with CS and without CS, to analyze if these anomalies are present due to CS or SD. Physical examination findings, MRI, CT, and USG reports were analysed for accompanying pathologies. Patients with missing data were excluded. Student-t and Fisher's exact tests were used to compare the groups. Significance value was set as p = 0.05.
RESULTS
Ninety patients met inclusion criteria. The most common spinal anomaly was omovertebra, followed by spina bifida and Klippel-Feil. Tethered cord and diastematomiyelia were associated with CS (P = 0.0026 and P = 0.0057, respectively). The most common extra-skeletal anomaly was rib anomalies, followed by urinary and cardiac system anomalies. Rib anomalies were associated with CS (P = 0.00001).
CONCLUSION
Concomitant anomalies may accompany SD. The prognosis of SD may be affected by these anomalies. Therefore, patients should be evaluated for possible coexistent congenital anomalies.
LEVEL OF EVIDENCE
4.
Topics: Adolescent; Adult; Child; Child, Preschool; Comorbidity; Congenital Abnormalities; Female; Heart Defects, Congenital; Humans; Infant; Klippel-Feil Syndrome; Magnetic Resonance Imaging; Male; Middle Aged; Musculoskeletal Abnormalities; Retrospective Studies; Scapula; Scoliosis; Shoulder Joint; Spine; Young Adult
PubMed: 32355141
DOI: 10.1097/BRS.0000000000003523 -
Der Orthopade Mar 2020Sprengel's deformity is a rare congenital anomaly that can present in children, leading to cosmetic and functional impairment. This study investigated clinical results...
BACKGROUND
Sprengel's deformity is a rare congenital anomaly that can present in children, leading to cosmetic and functional impairment. This study investigated clinical results of this deformity among cases managed using a modified Green procedure.
METHODS
From February 2008 to September 2015 a total of 34 patients with Sprengel's deformity were treated with a modified Green procedure. The mean age of patients at the time of surgery was 4.8 years (range 2-12 years) and the average follow-up time was 6.1 years (range 4-10 years). The shoulder abduction, Cavendish classification, Rigault classification, scapular elevation, and postoperative complications were evaluated.
RESULTS
The mean shoulder abduction was 102.3° (range 70-140°) preoperatively and 142.6° (range 120-170°) postoperatively. The scapular elevation was 4.2 cm (range 2-6.5 cm) preoperatively and 1.35 cm (range 0-2 cm) postoperatively. Improvement by at least one Cavendish and/or Rigault grade was attained in all cases postoperatively. The differences in preoperative and postoperative shoulder abduction, scapular elevation, Cavendish grade and Rigault grade were statistically significant (p < 0.001).
CONCLUSION
The modified Green procedure is a relatively safe and reliable method in the treatment of severe Sprengel's deformity, which ensures successful shoulder function as well as a good cosmetic appearance.
Topics: Child; Child, Preschool; Congenital Abnormalities; Humans; Osteotomy; Range of Motion, Articular; Scapula; Shoulder Joint; Treatment Outcome
PubMed: 31628500
DOI: 10.1007/s00132-019-03818-2 -
Clinics in Plastic Surgery Oct 2015Patients presenting for correction of breast and chest wall asymmetries may have undergone numerous thoracic procedures in early childhood and may have suffered profound... (Review)
Review
Patients presenting for correction of breast and chest wall asymmetries may have undergone numerous thoracic procedures in early childhood and may have suffered profound psychosocial effects. Complex congenital syndromes as well as mild breast asymmetries should be carefully documented using objective measurements, photography, and 3-dimensional simulations when available. Shaped highly cohesive breast implants offer plastic surgeons more possibilities and precision by fine-tuning the gel distribution and specific volumes required to correct the hypoplastic elements. Long-lasting correction of asymmetry can be obtained when patients are not oversized, and care is taken to avoid visibility, palpability, and malposition problems.
Topics: Breast; Breast Diseases; Breast Implantation; Breast Implants; Female; Humans; Mammaplasty; Musculoskeletal Abnormalities; Thoracic Wall
PubMed: 26408441
DOI: 10.1016/j.cps.2015.06.009 -
The Indian Journal of Medical Research Jan 2016Parkinson`s disease (PD) is the most common neurodegenerative disease and is characterized by tremor, rigidity and akinesia. Diagnosis is clinical in the majority of the... (Review)
Review
Parkinson`s disease (PD) is the most common neurodegenerative disease and is characterized by tremor, rigidity and akinesia. Diagnosis is clinical in the majority of the patients. Patients with PD may have stooped posture but some of them develop different types of postural and striatal deformities. Usually these deformities are more common in atypical parkinsonian disorders such as progressive supranuclear palsy and multisystem atrophy. But in many studies it has been highlighted that these may also be present in approximately one third of PD patients leading to severe disability. These include antecollis or dropped head, camptocormia, p0 isa syndrome, scoliosis, striatal hands and striatal toes. The pathogenesis of these deformities is a complex combination of central and peripheral influences such as rigidity, dystonia and degenerative skeletal changes. Duration of parkinsonism symptoms is an important risk factor and in majority of the patients these deformities are seen in advanced statge of the disease. The patients with such symptoms may initially respond to dopaminergic medications but if not intervened they may become fixed and difficult to treat. Pain and restriction of movement are most common clinical manifestations and these may mimick symptoms of musculoskeletal disorders like rheumatoid arthritis. Early diagnosis is important as the patients may respond to adjustment in dopaminergic medications. Recent advances such as deep brain stimulation (DBS) and ultrasound guided botulinum toxin injection are helpful in management of these deformities in patients with PD.
Topics: Brain; Congenital Abnormalities; Corpus Striatum; Humans; Parkinson Disease; Posture
PubMed: 26997007
DOI: 10.4103/0971-5916.178577 -
Seminars in Thoracic and Cardiovascular... 2009There is a large and diverse group of congenital abnormalities of the thorax that manifest as deformities and/or defects of the anterior chest wall and, depending on the... (Review)
Review
There is a large and diverse group of congenital abnormalities of the thorax that manifest as deformities and/or defects of the anterior chest wall and, depending on the severity and concomitant anomalies, may have cardiopulmonary implications. Pectus excavatum, the most common anterior chest deformity, is characterized by sternal depression with corresponding leftward displacement and rotation of the heart. Pectus carinatum, the second most common, exhibits a variety of chest wall protrusions and very diverse clinical manifestations. The cause of these conditions is thought to be abnormal elongation of the costal cartilages. Collagen, as a major structural component of rib cartilage, is implicated by genetic and histologic analysis. Poland syndrome is a unique unilateral chest/hand deficiency that may include rib defects, pectoral muscle deficit, and syndactyly. Cleft sternum is a rare congenital defect resulting from nonfusion of the sternal halves, which leaves the heart unprotected and requires early surgical intervention.
Topics: Funnel Chest; Genetic Predisposition to Disease; Humans; Musculoskeletal Abnormalities; Poland Syndrome; Sternum; Thoracic Surgical Procedures; Thoracic Wall
PubMed: 19632563
DOI: 10.1053/j.semtcvs.2009.03.001 -
Nederlands Tijdschrift Voor... Nov 2012In congenital scoliosis, an anatomical spine deformity arose during embryonic vertebral development which caused a deformity. Approximately 38-55% of these deformities... (Review)
Review
In congenital scoliosis, an anatomical spine deformity arose during embryonic vertebral development which caused a deformity. Approximately 38-55% of these deformities appear as a syndrome. Prognosis and preferred treatment depend on the type offailure and the severity of the deformity, but surgical correction is often necessary. Neuromuscular scoliosis generally arises at a young age, is often rapidly progressive, and the magnitude of the curve can also progress even in adulthood. The prognosis of the curve together with the symptoms and prognosis of the associated neuromuscular condition determine the preferred treatment. The goal of surgical treatment is to improve the patient's quality of life. Two types of adult scoliosis occur: adult idiopathic scoliosis and adult degenerative scoliosis. The surgical principles for adult idiopathic scoliosis are almost identical to those for adolescent idiopathic scoliosis. In degenerative scoliosis, there is almost always a shorter fusion length. In the case of neurologic impairments, decompression of the spinal cord or nerve roots should be carried out.
Topics: Decompression, Surgical; Humans; Musculoskeletal Abnormalities; Prognosis; Quality of Life; Scoliosis; Spinal Fusion
PubMed: 23236736
DOI: 10.5177/ntvt.2012.11.12232