Visceral Malformations: Causes & Reasons

Possible Causes for Visceral Malformations

The syndrome involves multiple cutaneous and visceral venous malformations. Most appear to be sporadic though a few have autosomal dominant inheritance. [orca.cf.ac.uk]

From Wikidata Jump to navigation Jump to search Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated [wikidata.org]

It is reported that GI bleeding is the most common cause of death in most cases.[9] Diagnosis[edit] Visceral venous malformations seen in blue rubber bleb nevus syndrome. [en.wikipedia.org]

Hereditary Hemorrhagic Telangiectasia

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disease that results in mucocutaneous telangiectasias and arteriovenous visceral malformations. [ncbi.nlm.nih.gov]

The diagnosis is based on the presence of nosebleeds (epistaxis), skin or mucosal telangiectasia, visceral arteriovenous malformations, family history, or presence of a pathogenic [admerahealth.com]

Hereditary hemorrhagic telangiectasia is a rare autosomal dominant inherited disease that is usually complicated by visceral vascular malformations. [ncbi.nlm.nih.gov]

Atresia of Urethra

Clinical science Summary Congenital visceral malformations develop during organogenesis, which occurs in the first 8 weeks after conception (embryonal period). [amboss.com]

The diagnosis of visceral malformations, particularly a supernumerary kidney is not easy, especially in an environment where diagnostic facilities are not easily accessible [panafrican-med-journal.com]

Conclusion The diagnosis of visceral malformations, particularly a supernumerary kidney is not easy, especially in an environment where diagnostic facilities are not easily [panafrican-med-journal.com]

Aprosencephaly and Cerebellar Dysgenesis

He had no encephalocele or visceral malformations. [jmg.bmj.com]

Extracraniofacial abnormalities included five cases of multiple congenital malformations, mostly visceral and renal/urinary defects. [hal.inserm.fr]

[…] and midline structures that are common in cases of Chiari II malformation nor does it account for the numerous associated visceral malformations. [ajnr.org]

Mucocutaneous Venous Malformations

[…] arteriovenous malformations. [journals.lww.com]

Cardinal manifestations include small vessel telangectasias on mucocutaneous surfaces and visceral arterio-venous malformations, primarily in the lung, liver and central nervous [phaonlineuniv.org]

Visceral arteriovenous malformations (AVMs), which may be located in the lungs, brain, liver, spinal cord, and GI tract. [hht.yale.edu]

Saldino-Noonan Syndrome

Affected individuals often have narrow chests with short ribs and visceral malformations. Specific malformations differ between the syndromes. [forgottendiseases.org]

Both conditions are true multiple congenital anomaly syndromes and neonatally lethal forms of dwarfism with a narrow thorax, polydactyly and associated visceral malformations [link.springer.com]

Glutamyl Ribose-5-Phosphate Storage Disease

GNT102 Genetic Urogenital Tumor GNT116 Genetic Urticaria GNT036 Genetic Vascular Anomaly GNT128 Genetic Visceral Malformation of the Liver, Biliary Tract, Pancreas or Spleen [malacards.org]

GNT062 Genetic Tracheal Anomaly GNT159 Genetic Transient Congenital Hypothyroidism GNT039 Genetic Tumor of Hematopoietic and Lymphoid Tissues GNT137 Genetic Urogenital Tract Malformation [malacards.org]

Muscular Dystrophy-Dystroglycanopathy Type A7

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental[…] [ncbi.nlm.nih.gov]

Iodotyrosine Deiodinase Deficiency

Mars Med (1965) 0.75 [Congenital abdominal wall aplasia with multiple visceral malformations]. [pubrank.carbocation.com]

Exencephaly

and a variety of visceral anomalies thatinclude the heart, lungs, and genitourinary system. [explore.openaire.eu]

Harcha Kamal, Taheri Hafssa, Saadi Hanane and Mimouni Ahmed; Published: 31 May 2022 Publisher: Zenodo Abstract Limb body wallcomplex (LBWC) is a rare poly malformative syndrome [explore.openaire.eu]

We report a case of LBWC diagnosed post partum in a stillbornwith the following malformations: a large anterioromphalocele, spina bifida withmeningocele, and severescoliosis [explore.openaire.eu]

ZTTK Syndrome

facial dysmorphism, musculoskeletal abnormalities, and some visceral malformations is caused by de novo heterozygous mutations of the SON gene. [go.gale.com]

This syndrome characterized by intellectual disability, brain malformation, facial dysmorphism, musculoskeletal abnormalities, and some visceral malformations. [infactpublications.com]

Akio Iio, Hidenori Tabata, Atsuo Nakayama Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome, a rare congenital anomaly syndrome characterized by intellectual disability, brain malformation [read.qxmd.com]

Gallbladder Volvulus

malformations, multiple lithiasis and kyphoscoliosis (1). [scielo.isciii.es]

Other potential factors described to contribute to the appearance of this complication are lax and mobile vesicular mesentery, age related visceral ptosis, multiparity, congenital [scielo.isciii.es]

Rudd-Klimek Syndrome

Sirenomelia, also known as sirenomelia sequence, is a severe malformation of the lower body characterized by fusion of the legs and a variable combination of visceral abnormalities [scienceopen.com]

Record: found Abstract: found Article: found Is Open Access A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations [scienceopen.com]

The causes of this malformation remain unknown, although the discovery that it can have a genetic basis in mice represents an important step towards the understanding of its [scienceopen.com]

Partial Monosomy 13q

Death in infancy, owing mainly to gross visceral malformations, occurs more often in cases of del(9p) with another unbalanced chromosome segment (16/41) than in cases of del [ncbi.nlm.nih.gov]

Partial Monosomy 9p

Death in infancy, owing mainly to gross visceral malformations, occurs more often in cases of del(9p) with another unbalanced chromosome segment (16/41) than in cases of del [ncbi.nlm.nih.gov]

Short Rib-Polydactyly Syndrome

BACKGROUND: The short-rib polydactyly (SRP) syndromes are rare skeletal dysplasias caused by abnormalities in primary cilia, sometimes associated with visceral malformations [ncbi.nlm.nih.gov]

Visceral malformations are frequent and differ between the syndromes. Some cases do not fit any category. [orpha.net]

Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. [diseaseinfosearch.org]

Morse Rawnsley Sargent Syndrome

Other visceral malformations: Absent thyroid gland. Kidney or genitourinary tract anomalies. Vertebral anomalies. [fetalultrasound.com]

Diastematomyelia

Fetopathologic examination disclosed even more visceral malformations (anal atresia and unicorn uterus). [ncbi.nlm.nih.gov]

While patients are often initially asymptomatic, they may present due to visceral malformations, myelomeningoceles, lipomas, Chiari malformations, tethered spinal cords, and [appliedradiology.com]

Prenatal work-up (US, MRI) disclosed other visceral malformations (pelvic kidney), which led to the assumption of a complex polymalformative syndrome. [ncbi.nlm.nih.gov]

Hereditary Hemorrhagic Telangiectasia Type 2

Larger visceral arteriovenous malformations (AVMs) can be found in the brain, lung, liver, and elsewhere. 3 The clinical diagnosis of HHT is based on the presence of at least [phaonlineuniv.org]

Visceral arteriovenous malformations (AVMs) are usually asymptomatic but can lead to complications that produce highly variable manifestations. [orpha.net]

Pilarowski-Bjornsson Syndrome

malformations (frequently congenital heart defects), persistence of fetal fingertip pads, post-natal short stature, skeletal anomalies (brachymesophalangy, brachydactyly [findexpertmd.com]

Kabuki syndrome: A rare multiple congenital anomalies/neurodevelopmental disorder characterized by five major features: intellectual disability (typically mild to moderate), visceral [findexpertmd.com]

Hepatic Arteriovenous Malformation

visceral liver children Accepted January 26, 2011. [pediatrics.aappublications.org]

Fewer than 10% of patients who have visceral involvement by arteriovenous malformations have visceral signs and symptoms (eg, dyspnea or GI bleeding) as the initial manifestation [emedicine.medscape.com]

Participants had a definitive clinical diagnosis of HHT (defined as three or more Curacao criteria: epistaxis, telangiectasia, visceral arteriovenous malformation [AVM] or [archbronconeumol.org]

Autosomal Recessive Amelia

They had amelia, malformed head and other severe skeletal and visceral malformations. [link.springer.com]

Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. [mendelian.co]

Limb deficiency/heart malformation syndrome, a severe terminal transverse defect involving all four limbs and associated with congenital heart malformation (OMIM 246570) was [rrnursingschool.biz]

Pallister-Hall Syndrome

malformations and has_material_basis_in autosomal dominant heterozygous mutation in the GLI3 gene on chromosome 7p14. [wikidata.org]

Pallister-Hall syndrome is a disorder of development consisting of hypothalamic hamartoma, pituitary dysfunction, central polydactyly and visceral malformations. [ncbi.nlm.nih.gov]

PALLISTER-HALL SYNDROME; PHS Hypothalamic hamartoblastoma syndrome A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral [wikidata.org]

Short Rib-Polydactyly Syndrome Type Beemer-Langer

Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. [malacards.org]

Affected individuals often have narrow chests with short ribs and visceral malformations. Specific malformations differ between the syndromes. [forgottendiseases.org]

Orofaciodigital Syndrome

It is characterized by skeletal, neuronal and visceral malformations. Systematic References: 1. Thomas S et al. (2012) TCTN3 mutations cause Mohr-Majewski syndrome. 2. [moldiag.com]

Heart defects + + + Renal defects − − − Larynx hypoplasia + + + Epiglottis hypoplasia + + + Larynx harmatoma + + + Central nervous system Brain malformation + + + [obgyn.onlinelibrary.wiley.com]

− − − − − − + + + + + + Visceral Heart defects − + + ? ? ? − − + − + − − + + + Renal defects + + ? ? ? ? − ? [hindawi.com]

Balanced Autosomal Rearrangement in Abnormal Individual

Congenital visceral malformations associated with Down syndrome A congenital visceral malformation was present in 55.55% of the children with Down syndrome. [omicsonline.org]

Congenital visceral malformations screening was done using HITACHI EUB 5500 sonograph for heart, gastrointestinal and kidney. [omicsonline.org]

The aim of this work was to describe the congenital visceral malformations that were associated with DS in children followed in the pediatric unit of the National Health Teaching [omicsonline.org]

Cephalin Lipidosis

The patient also had multifocal neurologic abnormalities and various congenital malformations, as well as psychogenic megacolon. [amjmed.com]

Abstract A fourteen year old Negro boy with moderately severe, nonprogressive mental retardation since birth has been found to have a previously undescribed form of visceral [amjmed.com]

Jejunal Vascular Anomaly with Hemorrhage

The diagnostic yield was 26%, with the majority of lesions encountered being mucosal vascular malformations. [mayoclinic.pure.elsevier.com]

Visceral manifestations Rectal and bladder hemorrhage are serious complications of pelvic vascular malformations and have been reported in 1% of cases 10. [radiopaedia.org]

Visceral vascular malformations in KTS have been described involving organs such as the GI tract, liver, spleen, bladder, kidney, lung and heart[ 4 ]. [wjgnet.com]

Fitzsimmons-McLachlan-Gilbert Syndrome

Familial ventricular tachycardia Familial visceral myopathy Familial wilms tumor 2 Fan-Faz Fanconi anemia type 1 Fanconi anemia type 2 Fanconi anemia type 3 Fanconi Bickel [academickids.com]

Familial ventricular tachycardia Familial visceral myopathy Familial wilms tumor 2 Fan-Faz Fan death Fanconi anemia type 1 Fanconi anemia type 2 Fanconi anemia type 3 Fanconi [bionity.com]

Familial ventricular tachycardia Familial visceral myopathy Familial wilms tumor 2 Fan–Faz Fan death Fanconi anemia type 1 Fanconi anemia type 2 Fanconi anemia type 3 Fanconi–Bickel [ipfs.io]

Cor Biloculare

All four cases had severe pulmonic valve malformations, pulmonary artery atresia, and visceral heterotaxia. [ncbi.nlm.nih.gov]

[…] and visceral heterotaxia than reported before; and (3) the normal, full-term, uncomplicated… 2 Citations References SHOWING 1-10 OF 15 REFERENCES Congenital Cardiac Disease [semanticscholar.org]

[…] and visceral heterotaxia than reported before; and (3) the normal, full-term, uncomplicated pregnancies. [ncbi.nlm.nih.gov]