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Annals of Plastic Surgery Nov 2011Mozart ear is a congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded... (Review)
Review
Mozart ear is a congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded cavum conchae, and a slit-like narrowing of the orifice of the external auditory meatus. It is said to be uncommon, and because no one has yet fully described neither the disease nor the treatment, the concept of Mozart ear has not been unified. This report describes a case of a 13-year-old girl presented with an unusual congenital deformity which showed the features of Mozart ear. It is an extremely rare deformity that only about 4 clinical cases have been reported in medical literature thereby a treatment method has not been fully discussed. For surgical correction of our cases, we excised deformed conchal cartilage, turned it over, regrafted, and maintained a cosmetically positive result. We also reviewed and described the origin, current concept, and treatment method of Mozart ear.
Topics: Adolescent; Congenital Abnormalities; Ear, External; Female; Humans; Plastic Surgery Procedures
PubMed: 21587051
DOI: 10.1097/SAP.0b013e31820944d7 -
The Journal of Small Animal Practice Aug 1996A nine-week-old labrador was presented with a deformed left forelimb causing obvious lameness. Radiographs suggested that the dog had suffered a fracture involving the...
A nine-week-old labrador was presented with a deformed left forelimb causing obvious lameness. Radiographs suggested that the dog had suffered a fracture involving the radius and ulna which had healed resulting in a synostosis. There was a concurrent radial physeal injury. The dog was treated initially by osteotomy of the radius and ulna stabilised using a static external skeletal fixator. At a subsequent surgery lengthening of the limb was achieved by using an Ilizarov apparatus. Worsening carpal hyperflexion was managed by bandaging in forced extension. A successful outcome was achieved with a final result of a 24 per cent discrepancy in length between the two radii at 17 months of age. An increase in length of the ipsilateral humerus was seen in association with the shortened forelimb.
Topics: Animals; Congenital Abnormalities; Dog Diseases; Dogs; External Fixators; Forelimb; Humerus; Radiography; Radius; Synostosis; Ulna
PubMed: 8872934
DOI: 10.1111/j.1748-5827.1996.tb02414.x -
Spine Mar 2012Focused review of the literature. (Review)
Review
STUDY DESIGN
Focused review of the literature.
OBJECTIVE
Assist spine specialists in diagnosis and treatment of cervical spine anomalies found in selected genetic syndromes.
SUMMARY OF BACKGROUND DATA
Cervical spine instability and/or stenosis are potentially debilitating problems in many genetic syndromes. These problems can be overlooked among the other systemic issues more familiar to clinicians and radiologists evaluating these syndromes. It is imperative that spine specialists understand the relevant issues associated with these particular syndromes.
METHODS
The literature was reviewed for cervical spine issues in 10 specific syndromes. The information is presented in the following order: First, the identification and treatment of midcervical kyphosis in Larsen syndrome and diastrophic dysplasia (DD). Next, the upper cervical abnormalities seen in Down syndrome, 22q11.2 Deletion syndrome, pseudoachondroplasia, Morquio syndrome, Goldenhar syndrome, spondyloepiphyseal dysplasia congenita, and Kniest dysplasia. Finally, the chin-on-chest deformity of fibrodysplasia ossificans progressiva.
RESULTS
Midcervical kyphosis in patients with Larsen syndrome and DD needs to be evaluated and imaged often to track deformity progression. Upper cervical spine instability in Down syndrome is most commonly caused by ligamentous laxity at C1 to C2 and occiput-C1 levels. Nearly 100% of patients with 22q11.2 deletion syndrome have cervical spine abnormalities, but few are symptomatic. Patients with pseudoachondroplasia and Morquio syndrome have C1 to C2 instability related to odontoid dysplasia (hypoplasia and os odontoideum). Morquio patients also have soft tissue glycosaminoglycan deposits, which cause stenosis and lead to myelopathy. Severely affected patients with spondyloepiphyseal dysplasia congenita are at high risk of myelopathy because of atlantoaxial instability in addition to underlying stenosis. Kniest syndrome is associated with atlantoaxial instability. Cervical spine anomalies in Goldenhar syndrome are varied and can be severe. Fibrodysplasia ossificans progressiva features severe, deforming heterotopic ossification that can become life-threatening.
CONCLUSION
It is important to be vigilant in the diagnosis and treatment of cervical spine anomalies in patients with genetic syndromes.
Topics: Cervical Vertebrae; Congenital Abnormalities; Genetic Diseases, Inborn; Humans; Spinal Diseases
PubMed: 22045003
DOI: 10.1097/BRS.0b013e31823b3ded -
Prenatal Diagnosis Jan 2011To examine the performance of the 11-13 weeks scan in detecting non-chromosomal abnormalities. (Review)
Review
OBJECTIVE
To examine the performance of the 11-13 weeks scan in detecting non-chromosomal abnormalities.
METHODS
Prospective first-trimester screening study for aneuploidies, including basic examination of the fetal anatomy, in 45 191 pregnancies. Findings were compared to those at 20-23 weeks and postnatal examination.
RESULTS
Aneuploidies (n = 332) were excluded from the analysis. Fetal abnormalities were observed in 488 (1.1%) of the remaining 44 859 cases; 213 (43.6%) of these were detected at 11-13 weeks. The early scan detected all cases of acrania, alobar holoprosencephaly, exomphalos, gastroschisis, megacystis and body stalk anomaly, 77% of absent hand or foot, 50% of diaphragmatic hernia, 50% of lethal skeletal dysplasias, 60% of polydactyly, 34% of major cardiac defects, 5% of facial clefts and 14% of open spina bifida, but none of agenesis of the corpus callosum, cerebellar or vermian hypoplasia, echogenic lung lesions, bowel obstruction, most renal defects or talipes. Nuchal translucency (NT) was above the 95th percentile in 34% of fetuses with major cardiac defects.
CONCLUSION
At 11-13 weeks some abnormalities are always detectable, some can never be and others are potentially detectable depending on their association with increased NT, the phenotypic expression of the abnormality with gestation and the objectives set for such a scan.
Topics: Aneuploidy; Congenital Abnormalities; Female; Gastroschisis; Gestational Age; Heart Defects, Congenital; Humans; Kidney; Limb Deformities, Congenital; MEDLINE; Musculoskeletal Abnormalities; Nervous System Malformations; Nuchal Translucency Measurement; Pregnancy; Ultrasonography, Prenatal
PubMed: 21210483
DOI: 10.1002/pd.2642 -
American Journal of Physical... Sep 2000Humerus varus deformity (HVD) occurs unilaterally in a female (#85) skeleton and bilaterally in a male (#124) from Kellis 2, a Roman period cemetery (circa 300-450 AD)...
Humerus varus deformity (HVD) occurs unilaterally in a female (#85) skeleton and bilaterally in a male (#124) from Kellis 2, a Roman period cemetery (circa 300-450 AD) from Dakhleh, Egypt. The affected humeri were shortened, their glenohumeral joints deformed, and their upper diaphyses were angulated. The skeletons were otherwise normal. The severity of the changes suggests that the underlying growth disturbances occurred early in postnatal development. The differential diagnosis considers the mucopolysaccharidoses, thalassemia, infection, and birth trauma, with the latter being favored. Clinical data show limited morbidity or functional impairment in individuals with HVD, although radiographic analysis suggests that #85 may have favored her dominant arm. Ortner and Putschar (1981), and Hershkovitz et al (1991) describe the only other archaeological cases of HVD. These authors provide useful, though limited, information on the differential diagnosis of HVD in archaeological specimens. Future research should focus on documenting the prevalence and expressivity of HVD in Mediterranean population samples where thalassemia evolved. HVD is relatively common in thalassemics and this approach would be valuable for documenting the range of osseous responses characteristic of HVD.
Topics: Animals; Biological Evolution; Bone and Bones; Congenital Abnormalities; Diagnosis, Differential; Egypt; Female; Fossils; Hominidae; Humans; Humerus; Male; Paleopathology
PubMed: 10954623
DOI: 10.1002/1096-8644(200009)113:1<103::AID-AJPA9>3.0.CO;2-A -
Archives of Orthopaedic and Trauma... Dec 2008Correction of deformities about knee joint may prevent or delay the onset of osteoarthritis or mitigate its effects. Accurate correction of such deformities without...
BACKGROUND
Correction of deformities about knee joint may prevent or delay the onset of osteoarthritis or mitigate its effects. Accurate correction of such deformities without production of secondary deformities depends on precise localization and quantification of the deformities.
METHODS
We corrected deformities around the knee using acute correction with focal dome osteotomy in 21 segments (15 patients). Five segments underwent limb lengthening postoperatively.
RESULTS
The mean correction angle was 16.0 degrees . We were able to correct all segments. In the five lengthening cases, the mean external fixation index (EFI) was 70.9 days/cm, which is much higher than the generally reported EFI. There were eight complications, all but one of which occurred in lengthening cases.
CONCLUSIONS
We believe that acute correction with focal dome osteotomy is very useful for cases of alignment correction, but is not indicated for cases of alignment correction with lengthening, due to a high risk of complications related to poor callus formation.
Topics: Adolescent; Adult; Aged; Bone Lengthening; Bone Malalignment; Child; Cohort Studies; Congenital Abnormalities; External Fixators; Female; Follow-Up Studies; Humans; Ilizarov Technique; Joint Deformities, Acquired; Knee Joint; Male; Middle Aged; Osteotomy; Radiography; Range of Motion, Articular; Recovery of Function; Retrospective Studies; Risk Assessment; Treatment Outcome; Young Adult
PubMed: 18210142
DOI: 10.1007/s00402-008-0574-1 -
American Journal of Medical Genetics Jan 2000We studied a series of 27,145 consecutive infants with congenital defects and classified them into the currently recognized pathogenetic types of errors of... (Review)
Review
We studied a series of 27,145 consecutive infants with congenital defects and classified them into the currently recognized pathogenetic types of errors of morphogenesis, as defined by the International Working Group [Spranger et al., 1982: J Pediatrics 1:160-165]. Of all infants with congenital defects, 97.94% had malformations, 3.92% deformations, and 1.65% disruptions. Malformations associated with deformations were present in 3.12% of children with congenital anomalies, malformations with disruptions in 0.18%, deformations with disruptions in 0.07%, and malformations with deformations and disruptions in 0.14%. While deformations, including deformation sequences, were 2.38 times more common than disruptions and disruption sequences, isolated disruptions (1.27%) were more frequent than isolated deformations (0.59%). Knowledge of the frequencies of the different types of errors of morphogenesis (malformations, deformations, disruptions, developmental field defects, associations, complexes, unrecognized patterns of multiple congenital anomaly, and syndromes) may be of great value in the evaluation of patients with congenital anomalies.
Topics: Congenital Abnormalities; Humans; Infant; Infant, Newborn
PubMed: 10678664
DOI: No ID Found -
Advances in Human Genetics 1979
Review
Topics: Aneuploidy; Chromosomes, Human, 13-15; Chromosomes, Human, 16-18; Congenital Abnormalities; Down Syndrome; Female; Genetic Diseases, Inborn; Genetic Variation; Humans; Limb Deformities, Congenital; Male; Muscles; Phenotype; Syndrome; Terminology as Topic; Trisomy
PubMed: 160752
DOI: 10.1007/978-1-4615-8276-2_2 -
Pediatrics in Review Dec 1993External ear deformities by themselves do not require emergent treatment, but associated abnormalities need to be defined to enable long-term planning. The pediatrician...
External ear deformities by themselves do not require emergent treatment, but associated abnormalities need to be defined to enable long-term planning. The pediatrician can orchestrate the specialists and keep parents and patient informed maximally.
Topics: Child; Child, Preschool; Congenital Abnormalities; Ear, External; Humans
PubMed: 8115284
DOI: No ID Found -
Advances in Neonatal Care : Official... Oct 2002Newborn feet come in a variety of shapes and sizes. The foot is malleable, making it susceptible to compression and deformation from intrauterine positioning. Clinicians... (Review)
Review
Newborn feet come in a variety of shapes and sizes. The foot is malleable, making it susceptible to compression and deformation from intrauterine positioning. Clinicians frequently question whether variations represent deformations, that is, an alteration in the shape and contour of a normally formed foot, as opposed to a true structural malformation. Distinguishing between a temporary positional deformity and a more serious structural foot malformation is challenging and requires a clear understanding of the anatomy of the foot, its complex embryologic development, and the impact of environmental and intrauterine factors. This installment of Focus on the Physical provides a systematic framework to identify normal, abnormal, and atypical foot deformities in the newborn period. The current theories of pathogenesis are provided, along with a step-by-step approach to the examination of the foot. A series of clinical photographs illustrate talipes equinovarus, metatarsus adductus, talipes calcaneovalgus, and congenital vertical talus. A discussion of the diagnostic studies used to differentiate these abnormalities is provided, along with a brief overview of treatment options. Early recognition and treatment are essential to ensure optimal long-term functional outcomes.
Topics: Calcaneus; Clubfoot; Diagnosis, Differential; Foot; Foot Deformities, Congenital; Humans; Infant, Newborn; Metatarsus; Physical Examination; Talus; Ultrasonography, Prenatal
PubMed: 12881938
DOI: No ID Found