Most common manifestations are exomphalos, macroglossia, gigantism, and visceromegaly.
[ncbi.nlm.nih.gov]
Features characteristic of the BWS phenotype include both physical attributes, such as macroglossia, abdominal wall defects, gigantism, nevus flammeus, visceromegaly, and
[ncbi.nlm.nih.gov]
Perlman syndrome is an overgrowth syndrome with high perinatal mortality, most frequent antenatal findings include polyhydramnios, macrosomia, visceromegaly, nephromegaly
[ncbi.nlm.nih.gov]
[…] disease with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features, dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly
[ncbi.nlm.nih.gov]
[…] phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly
[orpha.net]
[…] clinically by progressive mental and motor deterioration, coarse facies, growth retardation, recurrent infections, dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly
[ncbi.nlm.nih.gov]
[…] disorders that result from deficient activity of the lysosomal hydrolase, β-galactosidase, and which manifest varying degrees of neurodegeneration, retinal cherry-red spots, and visceromegaly
[mayoclinic.pure.elsevier.com]
Clinical signs are variable and include arrest/regression of neurological development, hypotonia, visceromegaly, macular cherry-red spots, dysostosis and coarse facial features
[orpha.net]
The most severe form of GS, the early-infantile form, results in early onset of edema, ascites, visceromegaly, and skeletal dysplasia.
[ncbi.nlm.nih.gov]
The early infantile form is associated with fetal hydrops, edema, ascites, visceromegaly, skeletal dysplasia, and early death.
[uniprot.org]
Myoclonus, ataxia, angiokeratoma, cognitive disability, neurologic deterioration, absence of visceromegaly, and long survival are quite characteristic of this subtype.
[ommbid.mhmedical.com]
G M1 -gangliosidosis was of a late infantile variety without visceromegaly or skeletal abnormality but with the presence of PAS positive histiocytes in the liver and spleen
[jamanetwork.com]
Clinical signs are variable and include arrest/regression of neurological development, hypotonia, visceromegaly, macular cherry-red spots, dysostosis and coarse facial features
[orpha.net]
Details First-Page Preview Abstract A patient with monosialoganglioside accumulation in the brain is described who shows a clinical onset of the disease at 1 year of age, no visceromegaly
[karger.com]
: Macroglossia, omphalocele, adrenal cytomegaly, gigantism and hyperplastic visceromegaly.
[link.springer.com]
John Bruce Beckwith in 1969 Essential features Macrosomia Macroglossia Visceromegaly Embryonal neoplasms; mainly Wilms tumor and hepatoblastoma Omphalocele / exomphalos Adrenocortical
[pathologyoutlines.com]
Association with visceromegaly, macroglossia, microcephaly and abnormal umbilicus. New Eng. J. Med. 275: 236, Aug. 4, 1966.
[journals.sagepub.com]
Acromegaly occurs after epiphyseal closure, causing bone thickening and transverse growth and visceromegaly.
[healthguidance.org]
Acromegaly takes place after epiphyseal closure, creating bone thickening and transverse growth and visceromegaly.
[pituitarytumors.wordpress.com]
[…] macroglossia, hypertelorism, dental malocclusion, palatal abnormalities), supernumerary nipples, congenital heart defects and arrhythmias, vertebral segmental defects, abdominal visceromegaly
[orpha.net]
[…] presence of macrosomia, polyhydramnios, elevated maternal serum-α-fetoprotein, cystic hygroma, hydrops fetalis, increased nuchal translucency, craniofacial abnormalities, visceromegaly
[en.wikipedia.org]
The abdomen was flat with no palpable masses or visceromegaly and painless on palpation.
[clinmedjournals.org]
John Bruce Beckwith in 1969 Essential features Macrosomia Macroglossia Visceromegaly Embryonal neoplasms; mainly Wilms tumor and hepatoblastoma Omphalocele / exomphalos Adrenocortical
[pathologyoutlines.com]
A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA
[profiles.umassmed.edu]
Macroglossia, omphalocele, adrenal cytomegaly, gigantism, and hyperplastic visceromegaly. Birth Defects. 1969;5:188–96. Wiedemann HR.
[rarediseases.org]
[…] increasing severity with earlier age of onset; the one in neonates is accompanied by ascites, facial edema, inguinal edema, and early death; the one in infants is accompanied by visceromegaly
[medical-dictionary.thefreedictionary.com]
The infantile form (type i) features psychomotor deterioration, muscle spasticity, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, seizures
[icd10data.com]
Type II sialidosis is more severe than type I and is distinguished by the early onset of a progressive, rather severe, mucopolysaccharidosis-like phenotype with visceromegaly
[medlink.com]
General physical examination revealed no cutaneous stigmata (phacomatosis), visceromegalies, or retinal cherry-red spots.
[elsevier.es]
General physical examination revealed no cutaneous stigmata (phacomatosis), visceromegalies, or retinal cherry-red spots.
[elsevier.es]
General physical examination revealed no cutaneous stigmata (phacomatosis), visceromegalies, or retinal cherry-red spots.
[elsevier.es]
Beckwith-Wiedemann syndrome (ie, high birth weight, macroglossia, omphalocele, adrenal cortical cysts, mental retardation, visceromegaly, renal enlargement, hemihypertrophy
[web.archive.org]
The early infantile form is associated with fetal hydrops, edema, ascites, visceromegaly, skeletal dysplasia, and early death.
[genecards.org]
The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases.
[mendelian.co]
The juvenile/adult form is characterized by myoclonus, ataxia, angiokeratoma, mental retardation, neurologic deterioration, absence of visceromegaly, and long survival.
[genecards.org]
[…] macrosmia (large birth size), macroglossia (large tongue), hemihypertrophy (one side of the body is larger), other tumors in body, omphalocele (open abdominal wall) and visceromegaly
[en.wikipedia.org]
Acromegaly occurs after epiphyseal closure, causing bone thickening and transverse growth and visceromegaly.
[healthguidance.org]
[…] disease caused by lack of lysosomal beta-galactosidase and characterized by a slowly progressive course, and extrapyramidal signs, but without prominent skeletal changes or visceromegaly
[ncbi.nlm.nih.gov]
[…] hyperhidrosis, fatigue, proximal muscle weakness, decrease in libido, menstrual changes Signs Hypertension, coarse facial features, left ventricular hypertrophy, cardiomyopathy, visceromegaly
[aafp.org]
At physical examination no visceromegaly or lymphadenomegaly was observed. The urological exam showed urethrorrhagia without sings of macroscopic lesions.
[scielo.br]
[…] hyperhidrosis, fatigue, proximal muscle weakness, decrease in libido, menstrual changes Signs Hypertension, coarse facial features, left ventricular hypertrophy, cardiomyopathy, visceromegaly
[aafp.org]
General physical examination revealed no cutaneous stigmata (phacomatosis), visceromegalies, or retinal cherry-red spots.
[elsevier.es]
Niemann-Pick disease type C (NPC) is a neurometabolic genetic disorder that is distinguished from Niemann-Pick disease by its later onset, more insidious progression, variable visceromegaly
[ncbi.nlm.nih.gov]
[…] underdiagnosed and we argue that in the work-up of progressive neurological disorders NPC should be seriously considered, at all ages, whenever there is any combination of visceromegaly
[ncbi.nlm.nih.gov]
This case expands the clinical spectrum of Niemann-Pick disease type C by presenting in adulthood with subtle neurologic abnormalities; no visceromegaly and profound dementia
[ncbi.nlm.nih.gov]
[…] transcript: 1 p57: Beckwith-Wiedemann Syndrome Presented By: Jameeka Carrington 2 Symptoms of BWS Large body size (macrosomia) Large tongue (macroglossia) Large organs (visceromegaly
[slideplayer.com]
In the chest, there was neither visceromegaly nor mass. Figure 3.
[oatext.com]
[…] common between both studies correlate with symptoms of BWS PhenotypeBWS p57 KIP2 mutants IGFII transgenics Macroglossia _nd Gigantism _ * * Abdominal defect nd Hypoglycemia _ Visceromegaly
[slideplayer.com]
Necropsy findings included visceromegaly (left kidney and adrenal), cytomegaly of the fetal cortex and nodular arrangement of both adrenals, diffuse nesidioblastosis and islet
[ncbi.nlm.nih.gov]
Beckwith-Wiedemann syndrome is a genetic, systemic disorder characterized by macrosomia, macroglossia, omphalocele, and visceromegaly.
[pubs.rsna.org]
Bone-marrow foam cells Head tremor Foam cells Aplasia/Hypoplasia of the abdominal wall musculature Spastic dysarthria Supranuclear gaze palsy Vertical supranuclear gaze palsy Visceromegaly
[mendelian.co]
Fluid accumulation results in interstitial edema, visceromegaly and eventually organ dysfunction.
[karger.com]
Although visceromegaly is typical of Landing disease, symptoms of malabsorption and hypertension have not been reported in its course.
[ncbi.nlm.nih.gov]
Visceromegaly from leukemic cell infiltration is less commonly seen, with the liver, spleen and lymph nodes usually affected.
[omicsonline.org]
