Results 61 to 70 of about 14,956 (269)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij +5 more
wiley +1 more source
Congenital foot deformation alters the topographic organization in the primate somatosensory system [PDF]
Brain Structure and Function, 2014 Limbs may fail to grow properly during fetal development, but the extent to which such growth alters the nervous system has not been extensively explored. Here we describe the organization of the somatosensory system in a 6-year-old monkey (Macaca radiata) born with a deformed left foot in comparison to the results from a normal monkey (Macaca ...
Chia-Chi, Liao +4 more
openaire +2 more sources
The impact of the early tenotomy of Achilles tendon on the length and results of congenital clubfoot severe forms treatment [PDF]
Vojnosanitetski Pregled, 2019 Background/Aim. In this paper we present our modification of the Ponseti method which we have been using for the treatment of severe forms of congenital clubfoot since 2007. The aim of this paper was to determine, on the basis of the analysis of results,
Rakonjac Zoran
doaj +1 more source
Skeletal pathologies in extant crocodilians as a window into the paleopathology of fossil archosaurs
The Anatomical Record, EarlyView.Abstract Crocodilians, together with birds, are the only extant relatives to many extinct archosaur groups, making them highly important for interpreting paleopathological conditions in a phylogenetic disease bracketing model. Despite this, comprehensive data on osteopathologies in crocodilians remain scarce.
Alexis Cornille +6 more
wiley +1 more source
Maternal Height and Infant Body Mass Index Are Possible Risk Factors for Developmental Dysplasia of the Hip in Female Infants [PDF]
, 2015 Developmental dysplasia of the hip (DDH) is a wide-spectrum disease with a multifactorial etiology and, despite its prevalence, no definitive etiology has yet been established.
Atalar, Hakan +5 more
core +1 more source
Surgical Correction of Congenital Planovalgus Foot Deformity in Children
N.N. Priorov Journal of Traumatology and Orthopedics, 2011 During the period from 2002 to 2008 seventeen children with III degree of congenital planovalgus foot deformity (29 feet) were operated on at orthopaedic department of Nizhniy Novgorod Scientific Research Institute of Traumatology and Orthopaedics using new technique of surgical correction. In all cases long term results were assessed within the period
Maksim Valer'evich Vlasov +5 more
openaire +1 more source
Developmental Dynamics, EarlyView.Abstract Background Sporadic venous malformation (VM) is associated with the hyperactivating p.L914F mutation in TIE2, a receptor tyrosine kinase essential for vascular development. This mutation is not found in hereditary VM, suggesting incompatibility with life when expressed during early vascular development.
Lindsay J. Bischoff +6 more
wiley +1 more source
Congenital Calcaneovalgus:With Special Reference to Treatment and its Relation to Other Congenital Foot Deformities [PDF]
Acta Orthopaedica Scandinavica, 1974 (1974). Congenital Calcaneovalgus: With Special Reference to Treatment and its Relation to Other Congenital Foot Deformities. Acta Orthopaedica Scandinavica: Vol. 45, No. 1-4, pp. 145-151.
B, Larsen +2 more
openaire +2 more sources
BMC Musculoskeletal Disorders, 2023 Background Congenital talipes equinovarus (clubfoot) is a common musculoskeletal anomaly, with a suspected multifactorial etiopathogenesis. Herein, we used publicly available data to ascertain liveborn infants with clubfoot delivered in Denmark during ...
Paula L. Hedley +5 more
doaj +1 more source
Epilepsia, EarlyView.Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli +43 more
wiley +1 more source