Combs, et al: A new syndrome of neonatal hypoglycemia association with visceromegaly, microcephaly and abnormal umbilicus.
[whonamedit.com]
Unfortunately, macrosomia, macroglossia, visceromegaly, polyhydramnios and placentomegaly are later findings.
[sonoworld.com]
Donnel, et al: Hyperplastic fetal visceromegaly mith macroglossia, omphalocele, cytomegaly of adrenal fetal cortex, postnatal somatic gigantism and other abnormalties: Newly
[whonamedit.com]
[…] phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly
[orpha.net]
[…] disease with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features, dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly
[ncbi.nlm.nih.gov]
[…] clinically by progressive mental and motor deterioration, coarse facies, growth retardation, recurrent infections, dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly
[ncbi.nlm.nih.gov]
: 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]
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]
Symptoms are often observed around 3 months of age with progressive deterioration occurring between 12 and 18 months of age but visceromegaly, dysmorphisms and cherry-red
[themedicalbiochemistrypage.org]
Clinical signs are variable and include arrest/regression of neurological development, hypotonia, visceromegaly, macular cherry-red spots, dysostosis and coarse facial features
[orpha.net]
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]
[…] vs 0.8% USA) (12439823) Synopsis cardiac anomalies excess of cardiac malformation (15608459) epicardial angiofibroma (15608459) focal giant cell cardiomyopathy (4095024) visceromegaly
[humpath.com]
[…] macroglossia, hypertelorism, dental malocclusion, palatal abnormalities), supernumerary nipples, congenital heart defects and arrhythmias, vertebral segmental defects, abdominal visceromegaly
[orpha.net]
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]
A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA
[profiles.ucdenver.edu]
No locoregional adenopathy or visceromegaly was detected. Microscopic findings Figure 2 Figure 3 Figure 2.
[escholarship.org]
[…] facial features (coarse facial features) recurrent respiratory infections clusters of small, dark red spots on the skin (angiokeratomas) enlargement of some internal organs (visceromegaly
[childrenshospital.org]
[…] on the skin (angiokeratomas); distinctive facial features that are often described as "coarse"; recurrent respiratory infections; and abnormally large abdominal organs (visceromegaly
[medlineplus.gov]
The clinical picture consists of progressive mental and motor deterioration, coarse facies, recurrent infections, dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly
[ncbi.nlm.nih.gov]
[…] reviewing the most relevant diagnostic and therapeutic aspects.Clinical case: A tenmonth-old male infant with diagnosis of MIOP confirmed after presenting thrombocytopenia and visceromegaly
[revistaschilenas.uchile.cl]
Clinical case: A ten- month-old male infant with diagnosis of MIOP confirmed after presenting thrombocytopenia and visceromegaly.
[scielo.cl]
Discussion We are facing an infant with thrombocytopenia, which in the evolution develops bone marrow failure and visceromegaly, associated with skeletal sclerosis.
[scielo.cl]
[…] on the skin (angiokeratomas); distinctive facial features that are often described as "coarse"; recurrent respiratory infections; and abnormally large abdominal organs (visceromegaly
[medlineplus.gov]
Less common findings associated with severe forms of fucosidosis include abnormally enlarged internal organs (visceromegaly), such as the liver and spleen (hepatosplenomegaly
[rarediseases.org]
Her abdomen was soft and undistended with no masses, visceromegalies or tender sites upon palpation.
[scielo.isciii.es]
Furthermore, ultrasounds revealed no visceromegalies or space-occupying lesions, thus rendering unlikely that intrahepatic cholestases secondary to Hodgkin's disease be found
[scielo.isciii.es]
Although visceromegaly is typical of Landing disease, symptoms of malabsorption and hypertension have not been reported in its course.
[ncbi.nlm.nih.gov]
Clinical suspicion is based on signs of storage such as facial coarsening, hypertrophic gums, cherry-red macula, visceromegaly, dysostosis and psychomotor delay.
[orpha.net]
• Cherry-red macula; • Cardiomyopathy (enlarged, weakened heart muscle); • Enlarged organs inside of the abdomen, including liver, spleen, stomach, kidneys, or pancreas (visceromegaly
[secure.ssa.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]
Clinical suspicion is based on signs of storage such as facial coarsening, hypertrophic gums, cherry-red macula, visceromegaly, dysostosis and psychomotor delay.
[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]
Symptoms are often observed around 3 months of age with progressive deterioration occurring between 12 and 18 months of age but visceromegaly, dysmorphisms and cherry-red
[themedicalbiochemistrypage.org]
The type I (infantile) form is the most common and severe form with rapidly progressive central nervous system involvement and hypotonia by 6 months of age, visceromegaly,
[genedx.com]
The presence of one of the above conditions can be suspected on the basis of progressive psychomotor retardation, visceromegaly, facial dysmorphism, skeletal abnormalities
[escholarship.org]
The most characteristic clinical features are macroglossia, high birth weight, omphalocele, visceromegaly and hypoglycemia.
[pubmed.ncbi.nlm.nih.gov]
Hyperplastic fetal visceromegaly with macroglossia, omphalocele, cytomegaly of adrenal fetal cortex, postnatal somatic gigantism and other abnormalities: newly recognized
[aepnya.eu]
Clinical suspicion is based on signs of storage such as facial coarsening, hypertrophic gums, cherry-red macula, visceromegaly, dysostosis and psychomotor delay.
[orpha.net]
• Cherry-red macula; • Cardiomyopathy (enlarged, weakened heart muscle); • Enlarged organs inside of the abdomen, including liver, spleen, stomach, kidneys, or pancreas (visceromegaly
[secure.ssa.gov]
Little visceromegaly and milder skeletal disease are present compared to the infantile form. Death usually occurs before the second decade of life.
[emedicine.medscape.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]
The early infantile form is associated with fetal hydrops, visceromegaly, skeletal and ophthalmologic disorders, and early death.
[mayomedicallaboratories.com]
Patients with the late infantile form develop visceromegaly, dysostosis multiplex and heart involvement. 5.
[glycoforum.gr.jp]
The main symptoms are hypotonia, cerebellar ataxia and mental retardation; visceromegaly and coarse features are also present in infantile cases.
[tcdb.org]
Affected newborns exhibit visceromegaly, coarse features and failure to thrive immediately after birth.
[genecards.org]
The infantile form (type i) features psychomotor deterioration, muscle spasticity, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, seizures
[icd10data.com]
[…] 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]
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]
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]
Interestingly, we found another report of a fetus with the clinical diagnosis of BWS (macroglossia, omphalocele, visceromegaly, and extra-lobar lung sequestration) and left-sided
[frontiersin.org]
[…] presence of macrosomia, polyhydramnios, elevated maternal serum-α-fetoprotein, cystic hygroma, hydrops fetalis, increased nuchal translucency, craniofacial abnormalities, visceromegaly
[en.wikipedia.org]
Human Diseases Genetics Record 14, Textual support, English Record number: 14, Textual support number: 1 DEF [A] neonatal, cerebral gigantism characterized by macrosomia, visceromegaly
[btb.termiumplus.gc.ca]
When admitted, he was in good shape, with rosy complexion, and without adenomegaly or visceromegaly.
[scielo.br]
Additional features include ear lobe creases and helical pits, visceromegaly, hemihypertrophy, neonatal hypoglycaemia, renal abnormalities and embryonal tumours (Table 3).
[nature.com]
Interestingly, we found another report of a fetus with the clinical diagnosis of BWS (macroglossia, omphalocele, visceromegaly, and extra-lobar lung sequestration) and left-sided
[frontiersin.org]
