[…] to search autosomal dominant disease characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid
[wikidata.org]
habitus is reported.
[ncbi.nlm.nih.gov]
Patients almost always have a marfanoid habitus.
[msdmanuals.com]
Homocystinuria was first described in 1962 as the constellation of tall, thin body type (so-called Marfanoid habitus), lens subluxation with high myopia, frequent developmental
[jci.org]
habitus, osteoporosis, attention deficit and hyperactivity disorder.
[ncbi.nlm.nih.gov]
Without treatment, symptoms vary widely and may present at different ages, ranging from lens dislocation, poor vision, developmental delays, marfanoid habitus, and acute thromboembolism
[medicalhomeportal.org]
The emergence of additional clinical signs (marfanoid habitus, severe myopia and dilatation of the aortic bulb) lead to consider the diagnosis of the progeroid variant of
[ncbi.nlm.nih.gov]
On physical examination he presented with marfanoid habitus. Pneumothorax was managed conservatively with resolution.
[ncbi.nlm.nih.gov]
Case 2 Clinical Data A 29-year-old woman with marfanoid habitus had aortic arch dissection and underwent corrective surgery.
[doi.org]
Homocystinuria also results in a Marfanoid habitus but presents with inferior and medial displacement of the lens ( downward and inward )!
[amboss.com]
Homocystinuria also results in a Marfanoid habitus but presents with inferior and medial displacement of the lens (downward and inward)!
[amboss.com]
Fryns Syndrome MARFAN LIPODYSTROPHY SYNDROME Marfan Syndrome Type 2 Marfanoid Habitus with Microcephaly and Glomerulonephritis Marfanoid Habitus with Situs Inversus Marfanoid
[rgd.mcw.edu]
Human phenotypes related to Marfanoid Habitus with Situs Inversus: 31 (show all 19) # Description HPO Frequency HPO Source Accession 1 scoliosis 31 HP:0002650 2 kyphosis 31
[malacards.org]
TY - JOUR T1 - Marfanoid habitus with abnormal situs.
[unboundmedicine.com]
They had Marfanoid habitus with pectus excavatum; fragile, hyperextensible, and readily bruisable skin with widened, atrophic scars; recurrent hematomas; generalized joint
[semanticscholar.org]
Other findings may include: marfanoid habitus; microcornea; and radiologically considerable osteopenia.
[ehlersdanlos.ca]
Other common features include a "marfanoid habitus" characterized by long, slender fingers; unusually long limbs; and a sunken chest or protruding chest.
[me-pedia.org]
habitus Growth Weight: decreased body mass index
[malacards.org]
habitus syndrome 4 Cases 672 Pallister-Hall syndrome 100 Cases 140966 Palmoplantar keratoderma, Nagashima type 20 Cases 2202 Palmoplantar keratoderma- deafness syndrome 10
[azkurs.org]
habitus X-linked intellectual deficit, Cabezas type X-linked intellectual deficit, Golabi-Ito-Hall type X-linked intellectual deficit, Najm type X-linked intellectual deficit
[csbg.cnb.csic.es]
MEN2B, however, is distinguished by multiple mucosal neuromas and distinctive marfanoid body habitus.
[dermatologyadvisor.com]
PURPOSE: To identify the molecular defects in the fibrillin-1 gene (FBN1) in two Chinese families with ectopia lentis (EL) and marfanoid habitus.
[ncbi.nlm.nih.gov]
habitus, mucosal neuromas, and Hirschsprung’s disease.
[onclive.com]
MEN 2B consists of MTC, pheochromocytoma, a marfanoid habitus, and ganglioneuromas of the intestinal tract mucosa.
[shifrinmd.com]
He lacked the classic marfanoid habitus, but had mucosal neuromas and thickened corneal nerves.
[ncbi.nlm.nih.gov]
MEN2B Marfanoid habitus Mucosal neuromas on lips, tongue and eyelids. Note that Abraham Lincoln was said (apocryphally?)
[medicalmediareview.com]
MEN 2A is further associated with primary hyperparathyroidism as well, while MEN 2B causes a marfanoid habitus and sometimes neurinomas.
[amboss.com]
These features, along with thickened lips and eyelids are associated with Marfanoid habitus (the features of Marfan syndrome). What is the cause of MEN type 2B disease?
[dermnetnz.org]
These features, along with thickened lips and eyelids are associated with Marfanoid habitus (the features of Marfan syndrome ). What is the cause of MEN type 2B disease?
[dermnetnz.org]
The third disorder begins with an M: Marfanoid habitus/Mucosal neuroma. Therefore, MEN type IIb has 1 P and 2 Ms.
[knowmedge.com]
habitus * Mental retardation, X linked, nonspecific * Mental retardation, X-linked 14 * Mental retardation * Mental retardation-polydactyly-uncombable hair Mer-Mes * Mercury
[en.academic.ru]
habitus Microcephaly hiatus hernia nephrotic syndrome Microcephaly hypergonadotropic hypogonadism short stature Microcephaly immunodeficiency lymphoreticuloma Microcephaly
[thefullwiki.org]
habitus * Microcephaly hiatus hernia nephrotic syndrome * Microcephaly hypergonadotropic hypogonadism short stature * Microcephaly immunodeficiency lymphoreticuloma * Microcephaly
[en.academic.ru]
habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.
[orpha.net]
Craniosynostosis syndrome associated with marfanoid habitus and intellectual difficulty.
[genetics4medics.com]
Artículo en Inglés | MEDLINE | ID: mdl-23103230 Resumen Shprintzen-Goldberg syndrome (SGS) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly
[pesquisa.bvsalud.org]
habitus Microcephaly hiatus hernia nephrotic syndrome Microcephaly hypergonadotropic hypogonadism short stature Microcephaly immunodeficiency lymphoreticuloma Microcephaly
[statemaster.com]
habitus Mental retardation, X linked, nonspecific Mental retardation, X-linked 14 Mental retardation, unexplained Mental retardation-polydactyly-uncombable hair Merlob Grunebaum
[mindmappedia.com]
habitus Mental retardation, X linked, nonspecific Mental retardation, X-linked 14 Mental retardation Mental retardation-polydactyly-uncombable hair Mer-Mes Mercury poisoning
[statemaster.com]
habitus Microcephaly hiatus hernia nephrotic syndrome Microcephaly hypergonadotropic hypogonadism short stature Microcephaly immunodeficiency lymphoreticuloma Microcephaly
[academickids.com]
habitus Mental retardation, X linked, nonspecific Mental retardation, X-linked 14 Mental retardation-polydactyly-uncombable hair Mer–Mes [ edit ] Mercury poisoning ( Mercurialism
[en.wikipedia.org]
habitus Mental retardation, X linked, nonspecific Mental retardation, X-linked 14 Mental retardation Mental retardation-polydactyly-uncombable hair Mer-Mes Mercury poisoning
[academickids.com]
Gene TGF-β1 gene, 19q13.2 (OMIM gene/locus number *190180 ) Phenotype Marfanoid habitus, waddling gait, muscular weakness, intense leg pain, flexion contracture of the hip
[iofbonehealth.org]
During the study, we encountered two unrelated girls, aged 17 and 11 years, who had clinical manifestations of the disorder, such as marfanoid habitus, waddling gait, muscular
[ncbi.nlm.nih.gov]
habitus, mucosal neuromas, medullated corneal fibers and intestinal autonomic ganglion dysfunction, leading to megacolon; and MEN4, which is also referred to as MENX, is
[f1000.com]
habitus Mnemonic: PMMM See also MEN1 (Wermer syndrome) MEN2 (multiple endocrine adenomatosis) MEN2a (Sipple syndrome) MEN2b (mucosal neuroma syndrome) familial medullary
[radiopaedia.org]
Signs/symptoms Typically, the first clinical signs of MEN2B are gastrointestinal symptoms (most commonly constipation), mucosal neuromas, and marfanoid habitus [5].
[webeye.ophth.uiowa.edu]
A marfanoid habitus and hyperextensible skin are seen with hypermobility syndrome.
[rheumaknowledgy.com]
Marfanoid habitus is absent.
[rheumatologyadvisor.com]
This complication is more frequent in the Marfan syndrome (MFS), but it is also seen in JHS patients with marfanoid habitus.
[reumatologia-dr-bravo.cl]
Abstract Congenital Contractural Arachnodactyly is an inherited disorder of connective tissue characterised by congenital contractures, arachnodactyly, marfanoid habitus,
[ncbi.nlm.nih.gov]
The principal features of CCA are a marfanoid habitus, multiple congenital contractures, camptodactyly, arachnodactyly, kyphoscoliosis, muscular hypoplasia, and external ear
[ncbi.nlm.nih.gov]
The clinical features are marfanoid habitus, arachnodactyly, crumpled ears, camptodactyly of the fingers and adducted thumbs, mild contractures of the elbows, knees, and hips
[ncbi.nlm.nih.gov]
[…] anomalies-intellectual disability syndrome 2 Cases 217026 Microcephaly-facio-cardio- skeletal syndrome, Hadziselimovic type 5 Cases 2172 Microcephaly- glomerulonephritis-marfanoid
[azkurs.org]
habitus Microcephaly hiatus hernia nephrotic syndrome Microcephaly hypergonadotropic hypogonadism short stature Microcephaly immunodeficiency lymphoreticuloma Microcephaly
[mindmappedia.com]
habitus Mental retardation, X linked, nonspecific Mental retardation, X-linked 14 Mental retardation Mental retardation-polydactyly-uncombable hair Mer-Mes Mercury poisoning
[thefullwiki.org]
Without treatment, symptoms vary widely and may present at different ages, ranging from lens dislocation, poor vision, developmental delays, marfanoid habitus, and acute thromboembolism
[medicalhomeportal.org]
Possible Signs and symptoms A family history of homocystinuria [ 2 ] Flush across the cheeks Musculoskeletal Tall, thin build (resembling Marfanoid habitus ) [ 1 ] Long limbs
[dictionnaire.sensagent.leparisien.fr]
Patients can have a marfanoid habitus even though they are not usually tall.
[msdmanuals.com]
Marfanoid habitus is absent.
[rheumatologyadvisor.com]
Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients. Mol Vis. 2007;13:1280–4.
[bmcmusculoskeletdisord.biomedcentral.com]
Homocystinuria Characterized by Marfanoid habitus, developmental delay, thrombosis, myopia, and ectopia lentis.
[rheumatologyadvisor.com]
COMMONLY ASSOCIATED CONDITIONS • Marfan syndrome: Aortic root dilation, Marfanoid habitus, pectus excavatum/carinatum, and other features. • Ehlers–Danlos: joint laxity, “
[entokey.com]
Patients typically have fair skin with coarse hair, osteoporosis, mental retardation (nearly 50%), seizure disorder, marfanoid habitus, and poor circulation.
[emedicine.medscape.com]
Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients.
[molvis.org]
Other systemic features in this type are the presence of hypermobile joints, skeletal abnormalities like scoliosis, pectus excavatum, a marfanoid habitus, and hearing loss
[aimu.us]
[…] anomalies-intellectual disability syndrome 2 Cases 217026 Microcephaly-facio-cardio- skeletal syndrome, Hadziselimovic type 5 Cases 2172 Microcephaly- glomerulonephritis-marfanoid
[azkurs.org]
habitus X-linked intellectual disability, Abidi type X-linked intellectual disability, Armfield type X-linked intellectual disability, Brooks type X-linked intellectual disability
[se-atlas.de]
habitus syndrome 2 Cases 137658 Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome 3 Cases 457351 Microcephaly-intellectual disability-sensorineural
[azkurs.org]
Marfanoid habitus is absent.
[rheumatologyadvisor.com]
Other Findings May Include: Marfanoid Habitus (Marfan like features) Micro Cornea (abnormally small cornea) Radiologically Considerable Osteopenia (diminished amount of bone
[learnaboutyourpain.com]
habitus Ocular symptoms: ptosis or myopia More recently, these criteria have been included into a more complex classification that of Brighton [7], divided into major and
[doctiktak.com]
She had long, thin arms and legs with arm span more than her height suggesting Marfanoid habitus. Weight of the patient was 41 kg.
[hindawi.com]
[citation needed] MEN2B associates medullary thyroid carcinoma with pheochromocytoma in 50% of cases, with marfanoid habitus and with mucosal and digestive neurofibromatosis
[en.wikipedia.org]
MEN 2B patients have medullary thyroid carcinoma in 100% of cases, pheochromocytoma in 50% of cases, and other features, including marfanoid habitus (tall, thin stature) and
[academic.oup.com]
habitus, dislocation of lens Venous and arterial thrombosis and cerebral infarcts
[neuropathology-web.org]
Marfanoid habitus in Homocystinuria), unusual odour (e.g. musty in Phenylketonuria (PKU)), ocular involvement (e.g. cherry red spots in Tay Sachs disease), cataracts (e.g.
[rch.org.au]
Neonatal encephalopathy, psychomotor retardation Brain swelling, spongy myelinopathy Homocystinuria (cystathionine beta synthase deficiency) Elevated homocysteine Thrombosis, Marfanoid
[neuropathology-web.org]
Pachydermoperiostosis (PDP) is a rare genetic disorder that affects both bones and skin. [1] Other names are idiopathic hypertrophic osteoarthropathy or Touraine-Solente-Golé syndrome. [2] It is mainly characterized by pachydermia (thickening of the skin), periostosis (excessive bone formation) and finger[…]
[en.wikipedia.org]
