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Pediatric Radiology Apr 2022Although radiographs are generally performed in the neonatal period to evaluate for causes of respiratory distress or to evaluate line placement, close attention to the... (Review)
Review
Although radiographs are generally performed in the neonatal period to evaluate for causes of respiratory distress or to evaluate line placement, close attention to the osseous structures can provide important clues to an underlying diagnosis. Although segmentation anomalies can be random, they are frequently associated with more complex entities such as VACTERL association. A butterfly vertebral body can hint at a possible diagnosis of Alagille syndrome even before jaundice develops in an infant with a murmur. Close evaluation of the sacrum can identify abnormalities that point to caudal regression or Currarino triad. Other classic musculoskeletal abnormalities in the extremities are readily apparent on physical exam but require radiographic evaluation to define anatomy. Diagnoses such as congenital pseudoarthrosis of the clavicle, Apert syndrome, constriction band syndrome, and proximal focal femoral deficiency have pathognomonic imaging findings. Given that treatment for these is usually delayed until later in life, extremity imaging might not occur in the neonatal period.
Topics: Anal Canal; Digestive System Abnormalities; Humans; Infant; Infant, Newborn; Limb Deformities, Congenital; Musculoskeletal Abnormalities; Sacrum
PubMed: 34731287
DOI: 10.1007/s00247-021-05200-x -
The Journal of Hand Surgery Apr 2015
Review
Topics: Abnormalities, Multiple; Humans; Mandibulofacial Dysostosis; Musculoskeletal Abnormalities; Phenotype; Upper Extremity Deformities, Congenital
PubMed: 25543163
DOI: 10.1016/j.jhsa.2014.10.064 -
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 -
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 -
Pediatric Clinics of North America Feb 2020Evaluation of the pediatric musculoskeletal system may be difficult because of differences between children and adults. As children mature, their physical structure... (Review)
Review
Evaluation of the pediatric musculoskeletal system may be difficult because of differences between children and adults. As children mature, their physical structure approaches that of an adult. However, in the meantime, varying stages of ossification and developmental timelines may confuse the average clinician. Congenital abnormalities of the upper extremity are extremely numerous, but here we present 10 that often are seen in clinical practice. The article discusses the diagnosis, evaluation, treatment, and outcomes of each condition.
Topics: Child; Hand Deformities, Congenital; Humans
PubMed: 31779839
DOI: 10.1016/j.pcl.2019.09.011 -
The Journal of Hand Surgery Dec 2013A cohort of patients with overgrowth syndromes has been identified with congenital lipomatous overgrowth, dysregulated fat deposits, and mixed vascular malformations.... (Review)
Review
A cohort of patients with overgrowth syndromes has been identified with congenital lipomatous overgrowth, dysregulated fat deposits, and mixed vascular malformations. The acronym CLOVES was given on a heuristic basis to stand for congenital lipomatous overgrowth (CLO), vascular malformation (V), epidermal nevi (E), and scoliosis and spinal deformities (S). These patients have upper limb anomalies with variable phenotypes. Although hand anomalies alone cannot make the diagnosis, the foot, truncal, cutaneous and spinal anomalies are particularly diagnostic. CLOVES syndrome has emerged as a distinct clinical entity diagnosed by clinical and radiographic examinations. The overgrowth pattern is now easily distinguished from other overgrowth syndromes.
Topics: Abnormalities, Multiple; Adolescent; Child; Child, Preschool; Combined Modality Therapy; Female; Hand Deformities, Congenital; Humans; Infant; Infant, Newborn; Lipoma; Male; Musculoskeletal Abnormalities; Nevus; Physical Examination; Prognosis; Rare Diseases; Survival Analysis; Tomography, X-Ray Computed; Treatment Outcome; Vascular Malformations
PubMed: 24161472
DOI: 10.1016/j.jhsa.2013.08.120 -
American Journal of Medical Genetics.... May 2017Craniosynostosis, the premature ossification of one or more skull sutures, is a clinically and genetically heterogeneous congenital anomaly affecting approximately one... (Review)
Review
Craniosynostosis, the premature ossification of one or more skull sutures, is a clinically and genetically heterogeneous congenital anomaly affecting approximately one in 2,500 live births. In most cases, it occurs as an isolated congenital anomaly, that is, nonsyndromic craniosynostosis (NCS), the genetic, and environmental causes of which remain largely unknown. Recent data suggest that, at least some of the midline NCS cases may be explained by two loci inheritance. In approximately 25-30% of patients, craniosynostosis presents as a feature of a genetic syndrome due to chromosomal defects or mutations in genes within interconnected signaling pathways. The aim of this review is to provide a detailed and comprehensive update on the genetic and environmental factors associated with NCS, integrating the scientific findings achieved during the last decade. Focus on the neurodevelopmental, imaging, and treatment aspects of NCS is also provided.
Topics: Congenital Abnormalities; Cranial Sutures; Craniosynostoses; Humans; Ossification, Heterotopic; Phenotype
PubMed: 28160402
DOI: 10.1002/ajmg.a.38159 -
American Family Physician Feb 2017
Topics: Arm; Congenital Bone Marrow Failure Syndromes; Diagnosis, Differential; Humans; Infant, Newborn; Male; Musculoskeletal Abnormalities; Radius; Thrombocytopenia; Upper Extremity Deformities, Congenital
PubMed: 28290636
DOI: No ID Found -
Urology Feb 1993Pseudoexstrophy is a rare, mild exstrophy variant which involves the major musculoskeletal defects of the exstrophy complex without any associated defect in the urinary... (Review)
Review
Pseudoexstrophy is a rare, mild exstrophy variant which involves the major musculoskeletal defects of the exstrophy complex without any associated defect in the urinary system. A case is reported presenting at birth as an umbilical positional anomaly. Differential diagnosis and management are reviewed.
Topics: Bladder Exstrophy; Congenital Abnormalities; Diagnosis, Differential; Humans; Infant, Newborn; Male; Umbilicus
PubMed: 8497983
DOI: 10.1016/0090-4295(93)90164-6 -
Chest Surgery Clinics of North America May 2000Pouter pigeon breast is a rare congenital deformity of the chest characterized by a protrusion of the manubriosternal junction and premature sternal ossification. The... (Review)
Review
Pouter pigeon breast is a rare congenital deformity of the chest characterized by a protrusion of the manubriosternal junction and premature sternal ossification. The adjacent costal cartilages, usually from the second to fifth, also protrude. One third of the patients with pouter pigeon breast presented with concomitant depression of the lower third of the sternum. Several cardiovascular abnormalities have been associated with premature sternal ossification, with ventricular septal defect being the most common. All patients with pouter pigeon breast should undergo echocardiography in search of occult cardiac lesions. The measurement of the angle of Louis on lateral chest radiograms allows the objective assessment of the deformity and appreciation of the sternal fusion. Surgical correction includes the wide wedge transverse sternotomy at the angle of Louis and subperichondrial resection of the adjacent costal cartilages. When the deformity is part of a syndrome or in cases of severe depression of the lower sternum, we recommend the technique using Marlex mesh support as described by Robicsek. Preferable age for repair is 5 to 7 years old. Long-term outcomes are encouraging.
Topics: Humans; Musculoskeletal Abnormalities; Orthopedic Procedures; Ossification, Heterotopic; Sternum; Thoracic Surgical Procedures
PubMed: 10803340
DOI: No ID Found