Results 91 to 100 of about 86,608 (248)
Patients with abnormal pressures under the toes.
, 2020 Out of the 69 hallux valgus cases we examined, these 25 displayed abnormally high peak pressures under toes 2-5 and, occasionally, abnormally low pressures under the hallux (36%).
Noël L. W. Keijsers (8501634) +4 more
core +1 more source
A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini +9 more
wiley +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan +13 more
wiley +1 more source
ATYPICAL DEFORMITY OF THE TOES
Байкальский медицинский журналRelevance. There are cases when a rare deformity does not fit into any known algorithm and requires a personalized approach, setting the clinician the non-trivial task of finding a non-standard solution.
Ivan V. Usoltsev, Svetlana N. Leonova
doaj +1 more source
, 2010 Socks in grey, black and cream with stripes and argyll pattern with individual toes. Date: 1975 - 1979 - from the The Betty Smithers Design Collection at Staffordshire University.
The Betty Smithers Design Collection at Staffordshire University +1 more
core
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena +13 more
wiley +1 more source
Anonychia of all toes with absence of phalangeal bones
, 1994 A ten year old girl suffered from anonychia of all toes, present from birth. The absence of nails was accompanied by absence of one or two phalangeal bones in toes other than the big toes.
Soulacos, P. N., Hatzis, J.
core
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr +7 more
wiley +1 more source
Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir +6 more
wiley +1 more source