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Orthopaedics & Traumatology, Surgery &... Feb 2020Congenital pathologies of the forefoot encompass two broad entities with vastly different treatments and prognosis: malformations, which occur during the embryonic... (Review)
Review
Congenital pathologies of the forefoot encompass two broad entities with vastly different treatments and prognosis: malformations, which occur during the embryonic period and cause anatomical defects, and deformations, which occur during the fetal period on a foot that is configured normally. These deformities are more easily cured when they occur later during the fetal period. When the anomaly is bilateral, a genetic origin must be considered. There are two main entities under the term "deformity": metatarsus adductus and skewfoot (aka "Z"-foot or serpentine foot). Within malformations are brachydactyly (transverse defects), longitudinal defects, syndactyly, polydactyly, clinodactyly and macrodactyly. Among other forefoot abnormalities are hallux valgus, which rarely presents in congenital form, and for which conservative treatment is sometimes sufficient. Also in this group are sequelae of amniotic band constriction, forefoot anomalies secondary to the treatment of congenital pathologies (talipes equinovarus and congenital vertical talus) and nail-related pathologies (ingrown toe nail and incorrect nail position).
Topics: Child; Foot Deformities, Congenital; Global Health; Humans; Incidence; Metatarsal Bones; Radiography
PubMed: 31648997
DOI: 10.1016/j.otsr.2019.03.021 -
American Journal of Medical Genetics.... Nov 2022The term symbrachydactyly has been used for the phenotype of two or three short fingers or toes, hypoplasia of the middle and distal phalanges and variable syndactyly of...
The term symbrachydactyly has been used for the phenotype of two or three short fingers or toes, hypoplasia of the middle and distal phalanges and variable syndactyly of the affected digits. Some clinicians have extended this diagnosis to include other phenotypes, specifically cleft hand, terminal transverse limb defects, hypoplasia of the thumb and fifth finger with nubbins for fingers 2, 3, and 4 and the hand deformity of the Poland anomaly. A malformations surveillance program can identify enough affected infants to characterize a phenotype. In the Active Malformations Surveillance Program in Boston (1972-2012) among 289,365 births, all infants and fetuses with structural abnormalities were identified from reading the examination findings by the pediatricians and pathologists and the results of diagnostic tests. Liveborn and stillborn infants were included, as well as fetuses from elective terminations because of anomalies identified in prenatal testing. We present the findings in 14 infants, all liveborn, who had symbrachydactyly of one or both hands (n = 12) or feet (n = 2). We suggest restricting the term symbrachydactyly to this single phenotype to improve counseling and to focus future research on identifying the cause(s).
Topics: Female; Finger Phalanges; Fingers; Hand Deformities, Congenital; Humans; Pregnancy; Syndactyly; Toes
PubMed: 36073773
DOI: 10.1002/ajmg.a.62941 -
The Journal of the American Academy of... Mar 2019Congenital tibial deficiency is a rare condition characterized by partial to complete absence of the tibia, an intact but frequently overgrown fibula, variable degrees... (Review)
Review
Congenital tibial deficiency is a rare condition characterized by partial to complete absence of the tibia, an intact but frequently overgrown fibula, variable degrees of knee deformity and function, and an abnormal equinovarus foot. It can occur in isolation but also presents concurrently with other orthopaedic anomalies and syndromic conditions. Among these, congenital abnormalities of the hand and femur are most commonly observed. Many theories exist regarding its etiology and some genetic mutations have been identified; however, the underlying mechanism remains unknown. The prognosis and treatment differ based on the clinical severity. The goal of treatment is always to create a stable, functional limb, most commonly with amputation and use of prosthetics. Controversy exists over the level of amputation and the usefulness of reconstructive procedures to preserve the foot and limb length. Current investigation on this complex disorder is focused on identifying its origins and further developing a classification-based treatment algorithm to improve patient outcomes.
Topics: Amputation, Surgical; Artificial Limbs; Female; Humans; Infant; Infant, Newborn; Lower Extremity Deformities, Congenital; Male; Tibia
PubMed: 30418269
DOI: 10.5435/JAAOS-D-16-00838 -
Foot and Ankle Clinics Dec 2015
Topics: Ankle; Ankle Fractures; Child; Foot Deformities, Acquired; Foot Deformities, Congenital; Humans
PubMed: 26589089
DOI: 10.1016/j.fcl.2015.09.014 -
Pediatrics in Review Apr 2021Congenital ear abnormalities present an aesthetic and psychosocial concern for pediatric patients and their parents. Diagnosis of external ear deformities is based on...
Congenital ear abnormalities present an aesthetic and psychosocial concern for pediatric patients and their parents. Diagnosis of external ear deformities is based on clinical examination and is facilitated by an understanding of normal ear anatomy. Ear anomalies can be categorized as malformations or deformations. Malformations are characterized by absent anatomical structures of the ear (or absence of the ear itself), as exemplified by microtia and anotia. Ear deformations are characterized by ear anatomical landmarks that are present but are distorted or abnormal, with Stahl ear, constricted ear, and prominent ear being common presentations. Ear malformations will not improve with growth of the patient and uniformly require surgical intervention to recreate an anatomically typical ear. Although a small percentage of ear deformations can self-resolve, most patients with ear deformations will require nonsurgical or surgical reconstruction to achieve a normal or more aesthetic ear. In recent decades the use of nonsurgical ear splinting or molding has been recognized as a highly effective method in correcting a variety of congenital ear deformations when treatment is initiated in the first 8 weeks of life. The urgency in initiating nonsurgical treatment of ear deformations at an early age makes prompt recognition of these ear deformations essential because surgical correction remains the only viable reconstructive option in older infants and children.
Topics: Aged; Child; Congenital Abnormalities; Ear, External; Face; Humans; Infant; Parents; Plastic Surgery Procedures
PubMed: 33795464
DOI: 10.1542/pir.2019-0167 -
Journal of Ayub Medical College,... 2018Various shoulder bone deformities have been identified in the pediatric age group, with the most common being undescended scapula. Sprengel's deformity is dysplasia and...
Various shoulder bone deformities have been identified in the pediatric age group, with the most common being undescended scapula. Sprengel's deformity is dysplasia and malposition of the scapula, especially in the supraspinatus portion, mainly due to abnormal descent in the embryonic period. The clavicle is shorter and has a different contour. In some patients cervical spine deformities are also noted. This is a case of 3 years old girl presented to the clinic with difficulty in abducting right shoulder and sleeping with an internal rotation of the right arm. With physical examinations and radiological investigations sprengel's deformity was diagnosed. Sprengel's deformity is a male predominant disease which almost never occurs in isolation and is usually associated with deformities in the thoracic rib cage and the cervical and thoracic vertebrae. Our patient also had hyperpigmentation along the lines of Blaschko, which has never been previously reported with Sprengel's deformity. Sprengel's may have an association with cutaneous mosacism syndrome.
Topics: Child, Preschool; Congenital Abnormalities; Female; Humans; Hyperpigmentation; Scapula; Shoulder Joint
PubMed: 29504352
DOI: No ID Found -
American Journal of Obstetrics and... Nov 2021
Topics: Congenital Abnormalities; Diagnosis, Differential; Female; Humans; Kidney; Kidney Diseases; Pregnancy; Prognosis; Ultrasonography, Prenatal
PubMed: 34507792
DOI: 10.1016/j.ajog.2021.06.048 -
Skeletal Radiology Apr 2019Following the thalidomide disaster (1958-62), Henkel and Willert analysed the pattern of dysmelia in the long bones (J Bone Joint Surg Br. 51:399-414, 1969) and the... (Review)
Review
BACKGROUND
Following the thalidomide disaster (1958-62), Henkel and Willert analysed the pattern of dysmelia in the long bones (J Bone Joint Surg Br. 51:399-414, 1969) and the extremities, Willert and Henkel (Z Orthop Ihre Grenzgeb. 107:663-75, 1970). Willert's material from deformed extremities is re-examined here asking "How does thalidomide reduce the skeleton?"
MATERIALS AND METHODS
We reviewed the original data collection of Willert and Henkel (Z Orthop Ihre Grenzgeb. 107:663-75, 1970), comprising musculoskeletal histology slides from 30 children affected by thalidomide with radiographs of hands (19 cases) and feet (4 cases).
RESULTS
All original observations by Willert and Henkel (Z Orthop Ihre Grenzgeb. 107:663-75, 1970), were verified. Radial rays of the hand disappeared early, but the foot was spared until late. Radiology confirms that bone reduction in the hand (aplasia or hypoplasia in the thumb and index finger) coincides with sensory segmental nerve C6. In the foot, reduction of the toes is rare, but mesenchymal excess (polydactyly) occurs in the hallux (L5 sclerotome), usually associated with absent tibia (L4 sclerotome). Histology confirms skeletal mesenchymal components to be unremarkable, contrasting with grossly abnormal bony architecture, a striking discordance between microscopic and macroscopic findings. No necrosis or vascular pathology was seen.
CONCLUSION
The basic lesion was an abnormal quantity rather than quality of mesenchyme. Cell populations result from cellular proliferation, controlled in early limb bud formation by neurotrophism. Thalidomide is a known sensory neurotoxin in adults. In the embryo, sensorineural injury alters neurotrophism, causing increased or diminished cell proliferation in undifferentiated mesenchyme. Differentiation into normal cartilage occurs later, but within an altered mesenchymal mass. Reduction or excess deformity results, with normal histology, a significant finding. The primary pathological condition is not in the skeleton, but in the nerves.
Topics: Abnormalities, Drug-Induced; Extremities; Humans; Infant, Newborn; Limb Deformities, Congenital; Peripheral Nervous System Diseases; Thalidomide
PubMed: 30341712
DOI: 10.1007/s00256-018-3086-2 -
Ultrasound in Obstetrics & Gynecology :... Oct 2019To examine the performance of the routine 11-13-week scan in detecting fetal non-chromosomal abnormalities.
OBJECTIVE
To examine the performance of the routine 11-13-week scan in detecting fetal non-chromosomal abnormalities.
METHODS
This was a retrospective study of prospectively collected data from 100 997 singleton pregnancies attending for a routine ultrasound examination of fetal anatomy, performed according to a standardized protocol, at 11-13 weeks' gestation. All continuing pregnancies had an additional scan at 18-24 weeks and 71 754 had a scan at either 30-34 or 35-37 weeks. The final diagnosis of fetal abnormality was based on the results of postnatal examination in cases of live birth and on the findings of the last ultrasound examination in cases of pregnancy termination, miscarriage or stillbirth. The performance of the 11-13-week scan in the detection of fetal abnormalities was determined.
RESULTS
The study population contained 1720 (1.7%) pregnancies with a fetal abnormality, including 474 (27.6%) detected on the first-trimester scan, 926 (53.8%) detected on the second-trimester scan and 320 (18.6%) detected in the third trimester or postnatally. At 11-13 weeks' gestation, we diagnosed all cases of acrania, alobar holoprosencephaly, encephalocele, tricuspid or pulmonary atresia, pentalogy of Cantrell, ectopia cordis, exomphalos, gastroschisis and body-stalk anomaly and > 50% of cases of open spina bifida, hypoplastic left heart syndrome, atrioventricular septal defect, complex heart defect, left atrial isomerism (interrupted inferior vena cava with normal intracardiac anatomy), lower urinary tract obstruction, absence of extremities, fetal akinesia deformation sequence and lethal skeletal dysplasia. Common abnormalities that were detected in < 10% of cases at 11-13 weeks included ventriculomegaly, agenesis of the corpus callosum, isolated cleft lip, congenital pulmonary airway malformation, ventricular septal defect, abdominal cysts, unilateral renal agenesis or multicystic kidney, hydronephrosis, duplex kidney, hypospadias and talipes.
CONCLUSIONS
A routine 11-13-week scan, carried out according to a standardized protocol, can identify many severe non-chromosomal fetal abnormalities. A summary statistic of the performance of the first-trimester scan is futile because some abnormalities are always detectable, whereas others are either non-detectable or sometimes detectable. To maximize prenatal detection of abnormalities, additional scans in both the second and third trimesters are necessary. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.
Topics: Adult; Congenital Abnormalities; Female; Fetus; Gestational Age; Humans; Nuchal Translucency Measurement; Pregnancy; Pregnancy Trimester, First; Pregnancy Trimester, Second; Pregnancy Trimester, Third; Prenatal Care; Retrospective Studies; Ultrasonography, Prenatal
PubMed: 31408229
DOI: 10.1002/uog.20844 -
Clinics in Perinatology Dec 2018This article reviews congenital anomalies involving the larynx and trachea, including congenital subglottic stenosis, laryngeal webs, laryngeal cleft, and tracheal... (Review)
Review
This article reviews congenital anomalies involving the larynx and trachea, including congenital subglottic stenosis, laryngeal webs, laryngeal cleft, and tracheal stenosis. Presenting signs and symptoms, prevailing surgical repair techniques, and postoperative care are discussed.
Topics: Bronchoscopy; Congenital Abnormalities; Female; Humans; Infant, Newborn; Laryngoscopy; Laryngostenosis; Larynx; Male; Prevalence; Prognosis; Plastic Surgery Procedures; Respiratory System Abnormalities; Risk Assessment; Tracheal Stenosis; Treatment Outcome
PubMed: 30396407
DOI: 10.1016/j.clp.2018.07.002