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Facial Plastic Surgery : FPS Dec 2015Half of the malformations in the ear, nose, and throat region affect the ear. Malformations of the external ear (pinna or auricle with external auditory canal [EAC]) are... (Review)
Review
Half of the malformations in the ear, nose, and throat region affect the ear. Malformations of the external ear (pinna or auricle with external auditory canal [EAC]) are collectively termed microtia. Microtia is a congenital anomaly that ranges in severity from mild structural abnormalities to complete absence of the external ear (anotia). Microtia occurs more frequently in males (∼2 or 3:1), is predominantly unilateral (∼70-90%), and more often involves the right ear (∼60%). The reported prevalence varies geographically from 0.83 to 17.4 per 10,000 births. Microtia may be genetic (with family history, spontaneous mutations) or acquired. Malformations of the external ear can also involve the middle ear and/or inner ear. Microtia may be an isolated birth defect, but associated anomalies or syndromes are described in 20 to 60% of cases, depending on study design. These generally fit within the oculo-auriculo-vertebral spectrum; defects are located most frequently in the facial skeleton, facial soft tissues, heart, and vertebral column, or comprise a syndrome (e.g., Treacher Collins syndrome). Diagnostic investigation of microtia includes clinical examination, audiologic testing, genetic analysis and, especially in higher grade malformations with EAC deformities, computed tomography (CT) or cone-beam CT for the planning of surgery and rehabilitation procedures, including implantation of hearing aids.
Topics: Congenital Abnormalities; Ear; Humans
PubMed: 26667631
DOI: 10.1055/s-0035-1568139 -
International Journal of Dermatology Dec 2014Accessory tragus is a developmental defect involving malformation of part of the external ear. It is a moderately rare congenital condition reported in 1858 by Birkett... (Review)
Review
Accessory tragus is a developmental defect involving malformation of part of the external ear. It is a moderately rare congenital condition reported in 1858 by Birkett for the first time. Histological features of accessory tragus include a thin layer of stratum corneum with a rugated epidermis, presence of eccrine glands, and irregular spatial positioning of vellus hair follicles accompanied by sebaceous glands. Accessory tragus is commonly a limited deformity; however, it can be a sign of associated congenital syndromes. It has been shown to be associated with Goldenhar syndrome, Townes-Brocks syndrome, Treacher-Collins syndrome, VACTERL syndrome, and Wolf-Hirschhron syndrome. Surgical excision, the most common form of management of accessory tragus lesions, typically leads to a positive outcome. An extensive search was performed using pubmed.gov, Embase, MedLine, and Googlescholar.com using key words: accessory tragus, congenital malformations of ear, first branchial arch, and embryology. In this paper, we review the clinical and histological presentation, associated syndromes, management, and outcome of accessory tragus.
Topics: Abnormalities, Multiple; Anal Canal; Anus, Imperforate; Congenital Abnormalities; Ear Cartilage; Esophagus; Goldenhar Syndrome; Hearing Loss, Sensorineural; Heart Defects, Congenital; Humans; Kidney; Limb Deformities, Congenital; Mandibulofacial Dysostosis; Spine; Thumb; Trachea; Wolf-Hirschhorn Syndrome
PubMed: 25266223
DOI: 10.1111/ijd.12369 -
Spine Aug 2009A focused review of the literature with regard to the important system abnormalities of patients with spinal deformities associated with exotic congenital syndromes with... (Review)
Review
STUDY DESIGN
A focused review of the literature with regard to the important system abnormalities of patients with spinal deformities associated with exotic congenital syndromes with additional data from the author's own experience in assessment of patients with rare syndromes treated for thoracic insufficiency syndrome.
OBJECTIVES
The objectives of this study are to emphasize important medical considerations that influence the choice of surgical treatment of spinal deformity in patients with exotic congenital syndromes and point out preoperative strategies that reduce treatment morbidity and mortality of these patients.
SUMMARY OF BACKGROUND DATA
Individual experience is limited in the treatment of spine abnormality in rare exotic syndromes and the medical aspects of these syndromes that may impact spinal treatment are seldom discussed in detail in the orthopedic literature. For a successful outcome in the treatment of spinal deformity in these unique patients, a working knowledge of the unique pitfalls in their medical care is necessary in order to avoid morbidity and mortality during their treatment.
METHODS
The literature was reviewed for 6 exotic congenital syndromes with known or unreported spinal abnormalities and the author's personal 22-years experience of the treatment of thoracic insufficiency syndrome in the relevant congenital syndromes was summarized.
RESULTS
Children with Marfan syndrome and spinal deformity may have serious cardiac abnormalities. Spontaneous dissection of the aortic root is a clear danger and patients should be monitored by serial echocardiograms. Prophylactic cardiac surgery may be necessary before spinal surgery is to be performed. Patients with Jeune syndrome have a high rate of proximal cervical stenosis and should undergo screening with cervical spine films at birth. Significant stenosis or instability may require decompression and cervical-occipital fusion. Arthrogryposis may be associated with a severe scoliosis and jaw contracture may make intubation difficult. Larsen syndrome may have early onset scoliosis that is very rigid and requires early intervention. Cervical kyphosis and subluxation may be lethal in these patients and screening radiographs are important. Upper airway abnormalities are an anesthesia concern. Jarcho-Levin syndrome is a thoracic volume depletion deformity due to shortness of the thorax, either a spondylocostal dysostosis variant or spondylothoracic dysplasia. The former has a chaotic congenital scoliosis with varied combination of missing and fused ribs. Although spondylocostal dysostosis has a benign reputation in the literature for respiratory complications, respiratory insufficiency is nevertheless common and 1 death is known from respiratory failure. Spondylothoracic dysplasia seldom has significant scoliosis, but has a mortality rate approaching 50% from respiratory complications due to thoracic insufficiency syndrome. In spite of severe restrictive respiratory disease, adult survivors of spondylothoracic dysplasia appear to do well clinically for unknown reasons. Cerebrocostomandibular syndrome has scoliosis, micrognathia, and thoracic insufficiency syndrome, due to an "implosion" deformity of the thorax from congenital pseudarthrosis of the posterior ribs.
CONCLUSION
For optimal patient care, it is necessary to have a clear understanding of exotic congenital syndromes and how they may impact on both the presentation of spinal deformity and the response to treatment, as well as how they may introduce additional morbidity into standard treatment plans. It is clear that with this understanding that preoperative strategies can be employed to enhance the safety of spinal treatment for these unique children.
Topics: Bone Diseases, Developmental; Child; Congenital Abnormalities; Dwarfism; Humans; Marfan Syndrome; Preoperative Care; Respiratory Insufficiency; Spinal Curvatures; Spine; Syndrome; Thoracic Cavity
PubMed: 19644333
DOI: 10.1097/BRS.0b013e3181ab64e9 -
Archives of Otolaryngology (Chicago,... Nov 1964
Review
Topics: Audiometry; Child; Congenital Abnormalities; Ear Deformities, Acquired; Ear, External; Ear, Inner; Ear, Middle; Humans; Mandibulofacial Dysostosis; Plastics; Surgery, Plastic; Surgical Procedures, Operative
PubMed: 14216013
DOI: 10.1001/archotol.1964.00750040519006 -
American Journal of Medical Genetics Jul 2001This overview of asymmetry addresses the following topics: chiral molecules; asymmetric signaling molecules, including N-cadherin, Shh, Fgf8, lefty1, lefty2, nodal,... (Review)
Review
This overview of asymmetry addresses the following topics: chiral molecules; asymmetric signaling molecules, including N-cadherin, Shh, Fgf8, lefty1, lefty2, nodal, Pitx2, activin betaB, activin receptor IIA, and cSnR; situs abnormalities; asymmetric cell division; laterality in humans and animals; behavioral asymmetry in humans and animals; asymmetric embryopathies, including Tessier-type "clefts"; hemiasymmetries such as hemihyperplasia, hemihypoplasia, and hemiatrophy; asymmetric vascular syndromes, including Klippel-Trenaunay and Sturge-Weber syndromes; plagiocephaly of the synostotic and deformational types; somatic mosaicism, including a discussion of McCune-Albright syndrome, fibrous dysplasia, GNAS1 mutations, and Proteus syndrome.
Topics: Animals; Body Patterning; Cell Division; Congenital Abnormalities; Eye Abnormalities; Gene Expression Regulation; Humans
PubMed: 11471152
DOI: 10.1002/ajmg.1217 -
Clinical Anatomy (New York, N.Y.) Mar 2002This study describes a congenital deformity of the shoulder joint in a 5-year-old female, associated with an undescended scapula and the presence of an omovertebral...
This study describes a congenital deformity of the shoulder joint in a 5-year-old female, associated with an undescended scapula and the presence of an omovertebral bone. Dissections on 16 cadavers were done to identify structures in danger of injure before operating on the patient. Surgeons need to take specific note of the dorsal scapular nerve.
Topics: Child, Preschool; Congenital Abnormalities; Female; Humans; Scapula; Shoulder Joint
PubMed: 11877793
DOI: 10.1002/ca.1109 -
Revue Des Maladies Respiratoires Feb 2007Pectus excavatum or funnel chest is the most common anterior chest wall deformity seen in children and adults. The sternal depression appears to be caused by overgrowth... (Review)
Review
INTRODUCTION
Pectus excavatum or funnel chest is the most common anterior chest wall deformity seen in children and adults. The sternal depression appears to be caused by overgrowth of the costal cartilages, also the cause of the less common deformities: pectus carinatum (pigeon breast) and pectus arcuatum.
BACKGROUND
Usually the overgrowth involves the third to seventh costal cartilages but it can be more or less extensive. The cardiopulmonary functional consequences are insignificant in the protrusional deformities and inconsistent in pectus excavatum and the indications for surgery are mainly cosmetic.
VIEWPOINT AND CONCLUSIONS
The procedural modalities are guided by morphological study of the CT scan. We describe a surgical technique that comprise subperichondrial excision of all deformed costal cartilages followed by transverse sternotomy to correct the sternal deformity, anteriorly in the case of pectus excavatum and posteriorly for pectus carinatum and arcuatum. As the perichondrial sheaths are totally preserved they are sutured in continuous layers to give a shortening effect. In the case of pectus excavatum the sternum is then secured anteriorly for about 6 months by a retrosternal metallic strut in an overcorrected position. The partially resected seventh cartilages are then sutured to the xiphoid. Other surgical techniques are described, including modified Ravitch's procedure, modelling osteochondroplasty, prosthetic reconstruction and Nuss's procedure. Results of the more important series are reported and discussed.
Topics: Congenital Abnormalities; Humans; Thoracic Wall
PubMed: 17347599
DOI: 10.1016/s0761-8425(07)91035-9 -
Advances in Veterinary Science and... 1972
Review
Topics: Abnormalities, Multiple; Animals; Bone Diseases; Cattle; Cattle Diseases; Central Nervous System; Congenital Abnormalities; Digestive System Abnormalities; Eye Abnormalities; Female; Genitalia; Heart Defects, Congenital; Joint Diseases; Limb Deformities, Congenital; Male; Metabolism, Inborn Errors; Muscular Diseases; Osteopetrosis; Skin Abnormalities
PubMed: 4624930
DOI: No ID Found -
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 -
Annals of Plastic Surgery Oct 2013Cryptotia is one of the most common auricular anomalies among East Asians and it is frequently associated with upper auricular malformation. Various surgical techniques...
Cryptotia is one of the most common auricular anomalies among East Asians and it is frequently associated with upper auricular malformation. Various surgical techniques have been described in the literature, such as V-Y plasty, Z-plasty, skin grafts, local skin flaps, and so on. Although relatively favorable results were obtained by these techniques, some problems remain, such as conspicuous scars, undercorrected or noncorrected auricular cartilage deformities, irregular contour, hair growth, and shallow auriculocephalic sulcus. Because both skin deficiency and cartilage deformities must be corrected for cryptotia with upper auricular deformity, the author has developed new surgical techniques, namely double V-Y advancement flap and cartilage strut graft techniques. These methods provide enough skin to the deformed areas and also good auricular contour with expanded upper auricular portion.
Topics: Adolescent; Adult; Child; Child, Preschool; Congenital Abnormalities; Ear Cartilage; Female; Humans; Male; Plastic Surgery Procedures; Surgical Flaps; Treatment Outcome; Young Adult
PubMed: 24037381
DOI: 10.1097/SAP.0b013e3182503c7f