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Neurosurgical Focus Dec 2010
Topics: Biological Evolution; Congenital Abnormalities; History, Ancient; Humans; Infant, Newborn; Skull
PubMed: 21121723
DOI: 10.3171/2010.12.FOCUS.Intro -
Journal of Computer Assisted Tomography 1996The purpose of this study was to define the pathoanatomy of the distal radius and surrounding soft tissues, identify the factors that may contribute to diminished...
PURPOSE
The purpose of this study was to define the pathoanatomy of the distal radius and surrounding soft tissues, identify the factors that may contribute to diminished forearm rotation, and relate these findings to alterations in wrist motion in skeletally immature patients with the Madelung deformity.
METHOD
Four skeletally immature female patients with bilateral Madelung deformities (eight wrists) underwent evaluation of each wrist with radiography, CT, and MRI to assess the morphology of the deformity. Two patients (four wrists) had isolated idiopathic Madelung deformities, and two patients (four wrists) had Madelung deformities secondary to dyschondrosteosis.
RESULTS
Radiographically, all wrists demonstrated dorsal bowing of the radius, marked ulnar tilting of the radius and radial tilting of the ulna, volar tilting of the distal articular surface of the radius, and triangulation of the epiphysis. On CT, patients with the idiopathic deformity demonstrated dorsal ulnar subluxation and relative supination of the carpus with respect to the distal radius. Patients with dyschondrosteosis demonstrated no ulnar subluxation and relative pronation of the carpus. All wrists demonstrated a fixed pronated deformity of the distal radius. On MRI, a physeal bar that bridged the distal metaphysis of the radius to the epiphysis was identified in all eight wrists, located on the volar aspect of the radius at the lunate facet. An anomalous volar ligament, a volar radiotriquetral ligament, and the short radiolunate ligament were hypertrophied in seven wrists.
CONCLUSION
Based on its location, it is likely that a physeal bar impedes the normal development of the distal radius ulnarly. Hypertrophy of the short radiolunate ligament may be an important contributing factor to carpal pyramidalization owing to tethering on the volar pole of the lunate. Diminished forearm rotation is likely related to carpal malalignment, a fixed pronated deformity of the distal radius, and dorsal bowing of the radius.
Topics: Adolescent; Age Factors; Child; Congenital Abnormalities; Female; Humans; Magnetic Resonance Imaging; Radius; Tomography, X-Ray Computed; Ulna; Wrist Joint
PubMed: 8708046
DOI: 10.1097/00004728-199607000-00001 -
Acta Paediatrica Academiae Scientiarum... 1982The so-called congenital postural deformities were evaluated in the material of the Hungarian Congenital Malformation Registry, 1970-1976. Seven categories of postural...
The so-called congenital postural deformities were evaluated in the material of the Hungarian Congenital Malformation Registry, 1970-1976. Seven categories of postural deformities: dislocation of the hip, clubfoot, torticollis, musculoskeletal, other limb, face-nose and auricular were separated. The occurrence of the combination of dislocation of the hip, clubfoot and torticollis is manifold of random combination. These three postural deformities, however, are not associated more often with other nonpostural type abnormalities. Thus the congenital postural deformity association composed of two or more combinations of dislocation of the hip, clubfoot and torticollis without other major congenital abnormalities is treated as a provisional entity. Its birth prevalence is 0.4 per 1000 total births thus after Down syndrome it is the second common type of multiple congenital abnormalities. The aetiology and its higher sib-occurrence are explained by intrauterine maternal moulding factors.
Topics: Abnormalities, Multiple; Clubfoot; Congenital Abnormalities; Female; Hip Dislocation, Congenital; Humans; Hungary; Infant, Newborn; Male; Musculoskeletal Abnormalities; Posture; Registries; Torticollis
PubMed: 7170954
DOI: No ID Found -
BMJ Case Reports Apr 2013Sprengel's deformity is a rare and complex congenital deformity of the shoulder girdle. The deformity commonly occurs sporadically, though in combination with other...
Sprengel's deformity is a rare and complex congenital deformity of the shoulder girdle. The deformity commonly occurs sporadically, though in combination with other congenital anomalies, such as congenital scoliosis, fusion of cervical vertebrae, and conditions like Klippel-Feil syndrome may coexist. We report a case of a 14-year-old girl with bilateral Sprengel's deformity presenting with a progressive bilateral lower limb weakness and gait abnormality. Radiological investigations demonstrated multiple musculoskeletal abnormalities on x-ray and lumbar spina bifida occulta causing tethering of the cord on MRI. The patient consulted neurosurgeons and orthopaedic surgeons, who recommended no operative intervention and conservative management till the end of growth spurt. Therefore, we prescribed a home-based exercise regimen to strengthen the periscapular and intrinsic foot muscles. Although rare, Sprengel's deformity can be associated with other musculoskeletal abnormalities including lumbar spina bifida and comprehensive neurological examination should not be ignored as it is much more than a cosmetic problem.
Topics: Abnormalities, Multiple; Adolescent; Congenital Abnormalities; Exercise Therapy; Female; Gait Disorders, Neurologic; Humans; Magnetic Resonance Imaging; Neural Tube Defects; Scapula; Scoliosis; Shoulder Joint
PubMed: 23605835
DOI: 10.1136/bcr-2013-009182 -
Plastic and Reconstructive Surgery Jan 2015Tuberous breast deformity is a common congenital anomaly with varying degrees of constriction, hypoplasia, skin deficiency, areolar herniation, and asymmetry that poses...
BACKGROUND
Tuberous breast deformity is a common congenital anomaly with varying degrees of constriction, hypoplasia, skin deficiency, areolar herniation, and asymmetry that poses challenges to consistency in aesthetic correction. In this study, the authors classify tuberous breast deformities, and evaluate their techniques used for treatment.
METHODS
Twenty-six patients (51 breasts) treated from 2008 to 2012 were included. Mean patient age was 25 years (range, 18 to 39 years). Cases were classified using a three-tier system. A periareolar approach and glandular scoring maneuvers were used in all cases. Prosthetic placement (implant or tissue expander) was subpectoral (dual-plane) in all cases. The selection of one- versus two-stage correction and mastopexy techniques is presented with reference to the specific deformities in each tier.
RESULTS
Mean follow-up was 22 months (range, 8 to 37 months). Twelve type I, 26 type II, and 13 type III deformities were treated. Periareolar incisions only were used in two (4 percent). Circumareolar mastopexy was used in 49 (96 percent), and vertical mastopexy was used in four (8 percent). One-stage correction was achieved in 47 (92 percent); four (8 percent) were treated in two stages with tissue expansion. The global complication rate for all patients in this study is 7.8 percent-two breasts (3.9 percent) had capsular contracture, and two (3.9 percent) had postoperative malposition.
CONCLUSION
The authors' experience demonstrates that satisfactory results can be obtained with appropriate classification and treatment of tuberous breast deformity with periareolar access, glandular scoring, subpectoral implant placement, and mastopexy techniques tailored to the specific deformity type.
CLINICAL QUESTION/LEVEL OF EVIDENCE
Therapeutic, IV.
Topics: Adolescent; Adult; Algorithms; Breast; Congenital Abnormalities; Esthetics; Female; Humans; Mammaplasty; Retrospective Studies; Young Adult
PubMed: 25539297
DOI: 10.1097/PRS.0000000000000823 -
British Journal of Plastic Surgery Sep 1996To date there are many descriptive terms for the tuberous breast deformity but there is no widely accepted nomenclature. A retrospective study was undertaken of 68...
To date there are many descriptive terms for the tuberous breast deformity but there is no widely accepted nomenclature. A retrospective study was undertaken of 68 tuberous breasts and the operative corrections performed. The deformities were classified into four types. Type I (hypoplasia of the lower medial quadrant), type II (hypoplasia of the lower medial and lateral quadrants, sufficient skin in the subareolar region), type III (hypoplasia of the lower medial and lateral quadrants, deficiency of skin in the subareolar region) and type IV (severe breast constriction, minimal breast base). Areolar prolapse, usually regarded as a major symptom, was only found in 30 (44%) deformed breasts. Postoperative review of 51 breasts in 31 patients showed that type I cases treated by reduction mammaplasty of adequately sized breasts or augmentation of hypoplastic breasts had excellent results. These procedures with additional spreading of the breast tissue in type II deformities give good results. Severe cases (types III and IV) treated by augmentation and tissue spreading procedures have an unsatisfactory shape and have a 'second crease' deformity. For types III and IV, additional skin in the subareolar region by tissue expansion or flap procedures is necessary. There is no one method to correct 'the' tuberous breast but there are many procedures which should be used according to the type of deformity. The classification developed could end the confusion in nomenclature.
Topics: Breast; Breast Implants; Congenital Abnormalities; Female; Follow-Up Studies; Humans; Mammaplasty; Retrospective Studies; Surgery, Plastic; Surgical Flaps; Terminology as Topic
PubMed: 8881778
DOI: 10.1016/s0007-1226(96)90000-4 -
Plastic Surgical Nursing : Official... 2016
Topics: Child, Preschool; Congenital Abnormalities; Hand; Hand Deformities; Humans; Infant; Pediatrics; Polydactyly; Plastic Surgery Procedures; Syndactyly; Thumb
PubMed: 27254243
DOI: 10.1097/PSN.0000000000000140 -
American Journal of Veterinary Research Feb 1985In a 13-year survey of equine congenital defects that resulted in death or required euthanasia in central Kentucky, necropsies were performed on 608 deformed fetuses or...
In a 13-year survey of equine congenital defects that resulted in death or required euthanasia in central Kentucky, necropsies were performed on 608 deformed fetuses or newborn foals. The following congenital anomalies were observed: contracted foal syndrome (33.2%), miscellaneous limb contraction (20%), multiple defects (5.3%), microphthalmia (4.6%), craniofacial malformations (4.3%), cleft palate (4.0%), heart defects (3.5%), umbilical defects (3.5%), and hydrocephalus (3.0%). Eleven less frequently occurring anomalies constituted the balance of the congenital defects in fetuses and newborn foals.
Topics: Abnormalities, Multiple; Animals; Congenital Abnormalities; Horse Diseases; Horses
PubMed: 3994101
DOI: No ID Found -
The Journal of Heredity Sep 1946
Topics: Congenital Abnormalities; Databases, Genetic; Fingers; Heredity; Humans; Syndactyly; Toes
PubMed: 20281709
DOI: 10.1093/oxfordjournals.jhered.a105639 -
Pediatric Clinics of North America Nov 1977Forty years ago Denis Browne wrote that the medical world was ignoring an important distinction among birth defects. There were, he said, a large group of abnormalities...
Forty years ago Denis Browne wrote that the medical world was ignoring an important distinction among birth defects. There were, he said, a large group of abnormalities caused not by genetic errors or teratogens but simply by fetal constraint. These abnormalities, if recognized early, could be readily ameliorated with simple, conservative forms of therapy. Today the full range and frequency of deformations are still not well appreciated and yet the recognition of these deformities may be more important than ever. The public is becoming increasingly aware of environmental hazards and genetic risks to their unborn children. They know of the difficult problems faced by families when malformed children are born. The physician who can rapidly and accurately diagnose deformities treats a good deal more than the problems of aberrant fetal molding.
Topics: Biomechanical Phenomena; Congenital Abnormalities; Face; Female; Foot Deformities, Congenital; Hip Dislocation, Congenital; Humans; Infant, Newborn; Knee; Pregnancy; Pregnancy Complications; Torticollis
PubMed: 927931
DOI: 10.1016/s0031-3955(16)33488-5