Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
The findings reported here confirm that NOG is essential for joint formation and suggest that Nog requirements during skeletogenesis differ between species and between specific skeletal elements within species.
Etiology of idiopathic scoliosis: current trends in research.
Although no consistent neurological abnormalities have been identified in patients with idiopathic scoliosis, it is possible that a defect in processing by the central nervous system affects the growing spine.
Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines
Experts in multiple medical specialties provided clinical management guidelines for pediatricians and other care providers that will assist in an accurate diagnosis of individuals with CFC, provide best practice recommendations, and facilitate long-term medical care.
Scoliosis in Twins: A Meta‐analysis of the Literature and Report of Six Cases
There is strong evidence for a genetic etiology for adolescent idiopathic scoliosis in monozygotes and a significantly higher rate of concordance than dizygous twins, and the curves inmonozygous twins develop and progress together.
Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.
Linkage studies localized the SMC and DMC disease genes to chromosome 18q12-21, providing evidence suggesting that they are allelic disorders and identify a gene necessary for normal skeletal development and brain function.
Tetrasomy 18p: Report of the molecular and clinical findings of 43 individuals
The phenotypic description of tetrasomy 18p is expanded to include neonatal jaundice and respiratory distress; recurrent otitis media; hearing loss; seizures; refractive errors; constipation and gastroesophageal reflux; cryptorchidism; heart defects; and foot anomalies.
Peripheral muscle weakness in RASopathies
Handgrip strength is decreased in the RASopathies, and the etiology of the reduced muscle force is unknown, but likely multifactorial.
Unilateral duplication of the great toe with anterolateral tibial bowing.
A syndrome consisting of unilateral duplication of the great toe in association with anterolateral bowing of the tibia is described, which is most consistent with a developmental rather than a genetic etiology.
Bone resorption in syndromes of the Ras/MAPK pathway
Bone resorption in syndromes of the Ras/MAPK pathway and the role of EMT in this pathway is studied.
Orthopaedic Conditions in Ras/MAPK Related Disorders
Orthopaedic manifestations are frequent and diverse in Ras/MAPK disorders and can be used in phenotypic differentiation between these disorders.