Results 61 to 70 of about 8,769 (269)
Frontiers in Pediatrics, 2022 BackgroundCongenital fibular deficiency is a rare disease with a broad spectrum of deformities. Associated anomalies complicate the symptoms of patients and, consequently, individualized treatments that aim at normal function and acceptable appearance ...
Wen Shu +3 more
doaj +1 more source
Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston +6 more
wiley +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young +6 more
wiley +1 more source
Congenital dislocation of the peroneal tendons in the calcaneovalgus foot
, 1983 Congenital dislocation of the peroneal tendons is a rare and infrequently reported deformity of the foot in the neonate. Four cases of this deformity associated with a congenital calcaneovalgus deformity of the foot have been treated and followed to the
WD Engber +3 more
core +1 more source
Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco +2 more
wiley +1 more source
Acta Orthopaedica et Traumatologica Turcica, 2020 Objectives: We evaluated the effect of abductor hallucis (AH) tendon release on residual adductus deformity in the surgical treatment of congenital clubfoot.\r\nMethods: The study included 35 patients with congenital clubfoot. Thirteen patients (group 1,
Ahmet Dogan +3 more
doaj +1 more source
Congenital constriction ring syndrome with foot deformity: two case reports [PDF]
Cases Journal, 2009 Congenital peripheral constriction ring originating from soft tissues of the leg that is characterized with compression in the soft tissue usually involving the deep fascia surrounding the leg at the time of birth is occasionally observed in lower extremity.
Ozkan, Korhan +5 more
openaire +2 more sources
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
Caudal Regression Syndrome with Pressure Ulcers of the Foot: A Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2017 Caudal Regression Syndrome (CRS) is a rare disorder which consists of abnormalities in the lumbosacral spine, rectum, urinary system and lower limbs.
Kosaku Yamamichi +2 more
doaj +1 more source