Several stigmata of connective tissue disorder were also noted on exam, including joint hyperlaxity.
[omicsonline.org]
Library of Medicine - PubMed Health Ehlers-Danlos Support UK Ehlers-Danlos Foundation of New Zealand References [ edit ] Cashin-Garbutt, A; 2014 'Double-Jointed - Joint Hyperlaxity
[en.wikibooks.org]
In contrast, we recently reported a syndrome of joint hyperlaxity, easy bruising, pelvic organs prolapses, premature rupture of the membranes and rectal bleeding associated
[ojrd.biomedcentral.com]
Joint hyperlaxity is accompanied by frequent luxations (hips, knees).
[orpha.net]
[…] lower face, an abnormally short neck, knock knees or genu valgum, flat feet, kyphoscoliosis, abnormal development of the growing ends of the long bones (epiphyses), joint hyperlaxity
[cags.org.ae]
From the age of 5 to 6 years, hypoplasia of the odontoid vertebra combined with joint hyperlaxity leads to an instability at the level of the first two cervical vertebra,
[orpha.net]
Ullrich congenital muscular dystrophy (UCMD), due to mutations in the collagen VI genes, is an autosomal recessive form of CMD, commonly associated with distal joints hyperlaxity
[ncbi.nlm.nih.gov]
Joint hyperlaxity and skin changes (follicular hyperkeratosis and muscle biopsy scar thinning) were unique to COL6A.
[ncbi.nlm.nih.gov]
Abstract Ullrich congential muscular dystrophy (UCMD) is a severe form of congenital muscular dystrophy manifesting axial muscle contractures and distal joint hyperlaxity.
[ncbi.nlm.nih.gov]
Skeletal anomalies include pectus excavatum, joint hyperlaxity and kyphoscoliosis.
[orpha.net]
Moderate MmD with Hand Involvement (less than 10 % of all affected patients): Characteristic of this subgroup is distal weakness of the upper limbs and hyperlaxity of the
[mgz-muenchen.de]
[…] screening in a consanguineous Algerian family in which three children presented in infancy with moderate weakness predominant in axial muscles, pelvic girdle and hands, joint hyperlaxity
[archive-ouverte.unige.ch]
Facial weakness, high-arched palate, ptosis, ophthalmoplegia, joint hyperlaxity, and contractures are common. Benign couse 37.
[slideshare.net]
Disease] rdfs:label Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity
[bio2rdf.org]
[…] a link between muscle fibers and the surrounding matrix Inheritance pattern : recessive (requires mutations in both copies of a gene to produce symptoms) CMD with joint hyperlaxity
[mda.org]
Integrin Alpha Nine presents with distal extremity hyperlaxity, hypotonia, scoliosis, proximal contractures, normal to mildly elevated CPK, and normal intelligence.
[disabled-world.com]
Hyperextensible Joints (hypermobility syndrome or hyperlaxity) are terms used to describe joints that stretch father than normal joints.
[coastalhealthcarenj.net]
Hypermobility Other names hyperlaxity, benign joints hypermobility syndrome (BJHS), hypermobility syndrome (HMS) Classification D ICD - 10 : M35.7 ICD - 9-CM : 728.5 OMIM
[en.wikipedia.org]
Congenital Hyperlaxity : Some athlete always had joint laxity which we call congenital hyperlaxity and makes them more vulnerable for shoulder subluxation/dislocation.
[davelessard.wordpress.com]
Athletes may be predisposed to MDI if they have a congenital condition of hyperlaxity (loose joints).
[sportsmd.com]
Patients with multidirectional loose shoulders are often also found to have loose joints or hyperlaxity in other areas of the body.
[rocmd.com]
We suggest that this complication is caused by the original underlying pathology such as dysplastic trochlea, abnormal TT-TG, patella alta and hyperlaxity, resulting a greater
[ncbi.nlm.nih.gov]
In the case of a single high energy injury in a mature non-hyperlax individual the MPFL is likely to be ruptured. This will require reconstruction.
[capetownkneesurgery.co.za]
Patellar dislocation usually occurs spontaneously following torsion of a semiflexed knee and is typically the result of underlying biomechanical abnormalities such as hyperlaxity
[amboss.com]
CONCLUSIONS: Significantly lower prolidase activity in patients with BJHS suggests that prolidase may affect the collagen metabolism and cause hyperlaxity.
[ncbi.nlm.nih.gov]
The major criteria are joint hyperlaxity, skin hyperextensibility, and no evidence of skin or soft tissue fragility.
[symptoma.com]
[…] patients with symptoms who do not develop osteoarthrosis or disc degeneration usually experience spontaneous improvement with increasing age, thus losing their juvenile hyperlaxity
[dynamicchiropractic.com]
Data were collected on gender, age, single or bilateral disease, general hyperlaxity, shoulder hyperlaxity, number of dislocations or subluxations, nontraumatic onset, and
[ncbi.nlm.nih.gov]
PURPOSE: Patients with generalized hyperlaxity with frank recurrent anterior shoulder dislocation had high failure rate after conservative and soft tissue stabilization procedures
[ncbi.nlm.nih.gov]
The study concluded that men, patients younger than 40 years at initial dislocation, shorter time from initial dislocation, hyperlaxity and lack of greater tuberosity fracture
[emedicine.medscape.com]
[…] cause a calcaneal spur, such as: Flat feet and hyperpronation; Feet with high arches; Bunions (HAV) and malfunction of the big toe; Lack of calf flexibility; Ligamentous hyperlaxity
[podimedic.com]
ORDO:2962, UMLS_CUI:C0268354 Definition: A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity
[informatics.jax.org]
Definition A syndrome characterized by facial dysmorphism with a progeroid appearance, large and late-closing fontanel, cutis laxa, joint hyperlaxity, athetoid movements and
[uniprot.org]
Congenital muscular dystrophy type 1A Congenital muscular dystrophy type 1B Congenital muscular dystrophy with cerebellar involvement Congenital muscular dystrophy with hyperlaxity
[se-atlas.de]
[…] syndrome Osteopetrosis and related disorders Osteopetrosis with renal tubular acidosis Osteopetrosis-hypogammaglobulinemia syndrome Osteoporosis-macrocephaly-blindness-joint hyperlaxity
[se-atlas.de]
The aim of which was to provide an overview of hyperlaxity of joints and this edition follows that aim by describing the most recent research and new developments in biochemistry
[books.google.com]
In addition, she had atrophic paper scars on the face, elbows, knees, and shins; ecchymoses on the lower legs; and generalized joint hyperlaxity.
[ncbi.nlm.nih.gov]
Joint hyperlaxity was limited to the1234 HUMAN MUTATION, Vol. 31, No. 11, 12331239, 2010metacarpophalangeal joints. She presented talipes valgus andplanus.
[vdocuments.net]
The patient was a 12-year-old boy who presented with poor postnatal growth, hypotonia, short stature, joint hyperlaxity, microcephaly, strabismus, bilateral cataracts, facial
[ncbi.nlm.nih.gov]
Joint issues: hyperlaxity, contractures Skin findings: cutis laxa, sagging, wrinkly, thin abnormal or atrophic scars, poor wound healing, spontaneous bruising Ocular findings
[unmc.edu]
Additionally, hypotonia, feeding problems, hyperlaxity of joints and an abnormal fat distribution might occur (Morava et al. 2008 ).
[link.springer.com]
Patients with joint and skin hyperlaxity along with scoliosis may need to have further work up for a connective tissue condition such as Ehlers-Danlos syndrome.
[ncbi.nlm.nih.gov]
These include a short fifth digit, dentinogenesis imperfecta, hyperlaxity, hearing loss, pes planus, bunions, and blue sclerae.
[emedicine.medscape.com]
[…] rates ranging from as low as 8% to as high as 78%.5,38,43,64,69 The causes are multifactorial, and is associated with skeletal immaturity, increased DMAA, hypermobility, hyperlaxity
[journals.sagepub.com]
Página 191 - Guijo P 1993 Joint hyperlaxity and musculoligamentous lesions: study of a population of homogeneous age, sex and physical exertion.
[books.google.es]
Hypermobiliteitssyndroom (HMS) Gewrichtsbanden en pezen Wikipedia (Eng): Hypermobility Double-jointedness, Extreme-flex, Hypermobility Syndrome, Benign Joint Hypermobility Syndrome or Hyperlaxity
[catsclem.nl]
Hyperlipoproteinemia, Type V HYPERMOBILITEIT &n bsp HYPERMOBILITY HYPERMOBILITEITSSYNDROOM HYPERMOBILITY SYNDROME HMS DOUBLE-JOINTEDNESS EXTREME-FLEX BENIGN JOINT HYPERMOBILITY SYNDROME HYPERLAXITY
[catsclem.nl]
However, the authors noted that the patient’s features of ID and severe hyperlaxity of joints were not typical presentations of this disorder.
[cags.org.ae]
[…] addition, a skeletal examination should look for the presence of contractures, spinal rigidity, scoliosis, kyphosis, and lordosis, and for the presence of excessive joint hyperlaxity
[healio.com]
[…] severe congenital presentation known as type Ullrich to a much milder form known as type Bethlem.57 This group of muscle disorders is characterized by a combination of joint hyperlaxity
[healio.com]
Etiology Flexible Developmental – the most common Hypermobile (ligamentous hyperlaxity; Ehlers-Donlos, Marfans) Neurogenic( rare and usually cause the reverse-Pes Cavus
[slideshare.net]
Facial weakness, high-arched palate, ptosis, ophthalmoplegia, joint hyperlaxity, and contractures are common. Benign couse 37.
[slideshare.net]
A homozygous microdeletion of chromosome 4q11-12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures. Hum Mutat 2005;26:279-280.
[uniklinikum-dresden.de]
1908, Howard coined the term congenital muscular dystrophy (CMD) when he described another infant with similar features. • Ullrich first described the combination of joint hyperlaxity
[slideshare.net]
/ horseshoe / fused kidneys - Gastric / pyloric stenosis - Hearing loss / hypoacusia / deafness - Hepatitis / icterus / cholestasis - Hyperextensible joints / articular hyperlaxity
[csbg.cnb.csic.es]
[…] phenotype with early onset cerebellar ataxia complicated by intellectual disability, epilepsy, attention deficit hyperactivity disorder, strabismus, oral apraxia and joint hyperlaxity
[ncbi.nlm.nih.gov]
Joint hyperlaxity was seen as well. Fig. 1 Pedigree and electropherogram of de novo KCND3 mutation. Pedigree of the Belgian family.
[bmcmedgenet.biomedcentral.com]
Other unique phenotypic features in our case were strabismus, severe oral apraxia, and joint hyperlaxity, which are all supposedly part of the phenotype of this de novo KCND3
[bmcmedgenet.biomedcentral.com]
[…] without hyperlaxity.
[doi.org]
There is a 39% average rate of recurrence of anterior shoulder dislocation, with age, sex, hyperlaxity and greater tuberosity fractures being the key risk factors.
[en.wikipedia.org]
Figure 7 Hyperlaxity and recurrent instability.
[doi.org]
Only an iliac osteotomy with or without a varus and derotation femoral osteotomy shows stability in other hyperlaxity syndromes 1, 5. Table 1.
[f1000research.com]
Summary The authors present a case of Ehlers-Danlos’ syndrome in its classical form that due to articular and ligamentous hyperlaxity was accompanied by orthopedic complications
[archbronconeumol.org]
In contrast, we recently reported a syndrome of joint hyperlaxity, easy bruising, pelvic organs prolapses, premature rupture of the membranes and rectal bleeding associated
[ojrd.biomedcentral.com]
Impingement is fairly rare in people under 30 years of age, when it is usually due to a glenohumeral joint instability problem (ligament hyperlaxity).
[beauchamportho.com]
The athlete will show some hyperlaxity in this athletic “lay back” shoulder position.
[mikereinold.com]
The physical examination consists of inspection, palpation, and passive and active range-of-motion testing of the shoulder, with attention to scapular dyskinesia and hyperlaxity
[dx.doi.org]
A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21.
[ncbi.nlm.nih.gov]
Onset is often at birth with congenital proximal contractures and arthrogryposis caused by reduced fetal movements, hypotonia, and early hyperlaxity of distal joints (Figure
[academlib.com]
Integrin Alpha Nine presents with distal extremity hyperlaxity, hypotonia, scoliosis, proximal contractures, normal to mildly elevated CPK, and normal intelligence.
[disabled-world.com]
