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Malformation Syndrome sentence examples within Multiple Malformation Syndrome
The 46,XY DSD genetic panel including testing for non-syndromic DSD, steroid abnormalities, skeletal dysplasia syndromes, and multiple malformation syndromes was unremarkable.
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135900) is a multiple malformation syndrome characterized by intellectual and/or developmental delay, and hypoplastic or absent fifth fingernails and/or toenails.
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Malformation Syndrome sentence examples within Congenital Malformation Syndrome
Case Report Caudal regression syndrome is a rare congenital malformation syndrome characterized by an abnormal development with varying degrees of the sacral and coccygeal vertebrae associated an other malformations: anorectal, vertebral, urogenital and abnormalities of the lower limbs.
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BACKGROUND
Epilepsy is a main feature of Mowat Wilson Syndrome (MWS), a congenital malformation syndrome caused by ZEB2 variants.
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Malformation Syndrome sentence examples within Vascular Malformation Syndrome
Hereditary hemorrhagic telangiectasia (HHT) is a rare germline vascular malformation syndrome with a prevalence of 1:5000-1:10,000 [.
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Germline mutations that predispose to deregulation of the RAS-MAPK signaling axis have also been identified in hereditary vascular malformation syndromes, highlighting the key role of this signaling axis in global AVM development.
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Malformation Syndrome sentence examples within Arteriovenou Malformation Syndrome
Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is an autosomal dominant condition, associated with heterozygous pathogenic variants in RASA1 and EPHB4 genes, characterized by multiple capillary malformations (CMs) with associated fast-flow vascular anomalies such as arteriovenous malformations (AVMs) and arteriovenous fistulas.
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Capillary malformation‐arteriovenous malformation syndrome (CM‐AVM) is a rare condition associated with mutations in the genes RASA1 and EPHB4.
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Malformation Syndrome sentence examples within Capillary Malformation Syndrome
We describe our series of 4 patients with megalencephaly-capillary malformation syndrome (MCAP) and review the literature in order to assess the optimal treatment for the associated hydrocephalus.
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Of 8 with large heads, 2 were diagnosed with MTOR mutations; 1 with PIK3CA mutation–producing megalencephaly, polymicrogyria, polydactyly, hydrocephalus (MPPH) syndrome; 3 with TSC mutations; 1 with megalencephaly capillary malformation syndrome; and 1 with hemimegalencephaly.
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Malformation Syndrome sentence examples within Craniofacial Malformation Syndrome
The Saethre-Chotzen syndrome is a craniofacial malformation syndrome characterized by synostosis of coronal sutures and limb anomalies.
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In this review we have chosen craniofacial malformation syndromes which are of relevance for the pediatrician, especially neonatologist: different types of craniosynostoses, oculo-auriculo-vertebral spectrum, Pierre Robin sequence and Treacher Collins syndrome.
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Malformation Syndrome sentence examples within Complex Malformation Syndrome
Purpose Mowat–Wilson syndrome (MWS) is a rare complex malformation syndrome which is characterized by typical facial dysmorphism, moderate to severe intellectual disability, global developmental delay, and multiple congenital anomalies.
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Malformation Syndrome sentence examples within Inherited Malformation Syndrome
Variants in transcription factor p63 have been linked to several autosomal dominantly inherited malformation syndromes.
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In this clinical report, we describe the implant-supported prosthetic treatment of a patient with cleidocranial dysplasia, a rare autosomal-dominant inherited malformation syndrome.
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Malformation Syndrome sentence examples within Skeletal Malformation Syndrome
Severe POR deficiency is characterized by the Antley-Bixler skeletal malformation syndrome and genital ambiguity in both sexes, and hence is easily recognized, but mild forms may present only with infertility and subtle disorders of steroidogenesis.
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Malformation Syndrome sentence examples within malformation syndrome characterized
Case Report Caudal regression syndrome is a rare congenital malformation syndrome characterized by an abnormal development with varying degrees of the sacral and coccygeal vertebrae associated an other malformations: anorectal, vertebral, urogenital and abnormalities of the lower limbs.
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The Saethre-Chotzen syndrome is a craniofacial malformation syndrome characterized by synostosis of coronal sutures and limb anomalies.
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Malformation Syndrome sentence examples within malformation syndrome caused
Case Report Caudal regression syndrome is a rare congenital malformation syndrome characterized by an abnormal development with varying degrees of the sacral and coccygeal vertebrae associated an other malformations: anorectal, vertebral, urogenital and abnormalities of the lower limbs.
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It is commonly associated with a number of malformation syndromes.
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Congenital hypoplasia of the masseter muscle is a rare condition most commonly associated with craniofacial or poly-malformation syndromes, with a small number of reported idiopathic cases.
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We concluded that CDK9 biallelic variants cause a CHARGE-like malformation syndrome with retinal dystrophy as a distinguishing feature.
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The Saethre-Chotzen syndrome is a craniofacial malformation syndrome characterized by synostosis of coronal sutures and limb anomalies.
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In this review we have chosen craniofacial malformation syndromes which are of relevance for the pediatrician, especially neonatologist: different types of craniosynostoses, oculo-auriculo-vertebral spectrum, Pierre Robin sequence and Treacher Collins syndrome.
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The 46,XY DSD genetic panel including testing for non-syndromic DSD, steroid abnormalities, skeletal dysplasia syndromes, and multiple malformation syndromes was unremarkable.
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The Saethre-Chotzen syndrome is a craniofacial malformation syndrome characterized by synostosis of coronal sutures and limb anomalies.
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Smith‐Lemli‐Opitz syndrome (SLOS) is a congenital and developmental malformation syndrome associated with defective cholesterol biosynthesis.
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Patients with similar clinical features who are genetically undiagnosed should be tested for recessive ALDH1A2‐deficient malformation syndrome.
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We describe our series of 4 patients with megalencephaly-capillary malformation syndrome (MCAP) and review the literature in order to assess the optimal treatment for the associated hydrocephalus.
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BACKGROUND
Epilepsy is a main feature of Mowat Wilson Syndrome (MWS), a congenital malformation syndrome caused by ZEB2 variants.
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Congenital heart defects and skeletal malformation syndrome is very rare syndrome.
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Background Smith–Lemli–Opitz syndrome (SLOS) is an autosomal, recessively inherited congenital malformation syndrome characterized by multiple congenital anomalies such as microcephaly with mental defects, distinctive facial features, genital abnormalities, and 2–3 syndactyly of the toes.
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, glycogen storage diseases, lysosomal storage diseases, and fatty acid oxidation disorders), malformation syndromes, neuromuscular diseases, and mitochondrial disease, which globally represent up to 35% of children with HCM.
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Hereditary hemorrhagic telangiectasia (HHT) is a rare germline vascular malformation syndrome with a prevalence of 1:5000-1:10,000 [.
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Purpose Mowat–Wilson syndrome (MWS) is a rare complex malformation syndrome which is characterized by typical facial dysmorphism, moderate to severe intellectual disability, global developmental delay, and multiple congenital anomalies.
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It is, then, common for the neonatologist to start a diagnostic process on suspicion of a genetic disease or malformation syndrome, or to make and communicate these diagnoses.
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Of 8 with large heads, 2 were diagnosed with MTOR mutations; 1 with PIK3CA mutation–producing megalencephaly, polymicrogyria, polydactyly, hydrocephalus (MPPH) syndrome; 3 with TSC mutations; 1 with megalencephaly capillary malformation syndrome; and 1 with hemimegalencephaly.
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Variants in transcription factor p63 have been linked to several autosomal dominantly inherited malformation syndromes.
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Vertebral, Cardiac, Renal and Limb Defect Syndrome (VCRL), is a very rare congenital malformation syndrome.
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135900) is a multiple malformation syndrome characterized by intellectual and/or developmental delay, and hypoplastic or absent fifth fingernails and/or toenails.
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Turner syndrome (TS) is one of the most common malformation syndromes in females.
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Some of them were totally imaginary, others were likely inspired by individuals with malformation syndromes, while others are composites of parts of different species.
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Multiple malformation syndromes (MMS) belong to a group of genetic disorders characterised by neurodevelopmental anomalies and congenital malformations.
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Germline mutations that predispose to deregulation of the RAS-MAPK signaling axis have also been identified in hereditary vascular malformation syndromes, highlighting the key role of this signaling axis in global AVM development.
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Then, the diagnosis was revised to hypertrophic cardiomyopathy(HCM) and suspected congenital malformation syndrome.
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The phenotypes included syndromic/nonsyndromic NDD/ID, oral–facial–digital syndrome, cardiomyopathies, malformation syndrome, short stature, skeletal dysplasia, and ciliary dyskinesia.
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Feingold syndrome type 2 (FGLDS2, MIM614326) is a genetic congenital malformation syndrome, caused by germline heterozygous deletion of MIR17HG on chromosome 13q31, which is extremely rare worldwide.
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Severe POR deficiency is characterized by the Antley-Bixler skeletal malformation syndrome and genital ambiguity in both sexes, and hence is easily recognized, but mild forms may present only with infertility and subtle disorders of steroidogenesis.
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” Lewis Holmes, a recognized specialist in teratology, describes in detail what is known about transverse terminal limb agenesis: clinical forms, prevalence at birth, laterality, etiological elements (inclusion in a multiple malformation syndrome, known risk factors).
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Cleft palate lateral synechia (CPLS) syndrome is an extremely rare congenital malformation syndrome of unknown origin, characterized by the association of cleft palate and one or more intraoral lateral synechiae (OMIM # 119550).
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BACKGROUND
Rubinstein-Taybi syndrome (RSTS) is a rare congenital malformation syndrome with clinical characteristics such as hypertrichosis, high arched eyebrows, large beaked nose, and broad thumbs and halluces.
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The characterization of major and minor congenital anomalies has facilitated the recognition of multiple genetic and non-genetic “multiple malformation syndromes.
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Treacher Collins syndrome (TCS) is a heterogenous malformation syndrome characterized by a distinct facial appearance including downslanting palpebral fissures, malar hypoplasia, conductive hearing loss, and mandibular hypoplasia.
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Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is an autosomal dominant condition, associated with heterozygous pathogenic variants in RASA1 and EPHB4 genes, characterized by multiple capillary malformations (CMs) with associated fast-flow vascular anomalies such as arteriovenous malformations (AVMs) and arteriovenous fistulas.
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Introduction: Down syndrome (DS) is the most common multiple malformation syndrome in humans and is associated with an increased risk of childhood malignancy, particularly leukemia.
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It is, then, common for the neonatologist to start a diagnostic process on suspicion of a genetic disease or malformation syndrome, or to make and communicate these diagnoses.
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Approximately, 50% of cases are associated with genetic and multiple malformation syndromes including trisomy 13/18, pentalogy of Cantrell and Beckwith–Wiedemann syndrome.
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Craniofacial anomalies are either isolated, resulting from abnormal development of the first two embryonic pharyngeal arches, or part of multiple malformation syndromes affecting many other organs.
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Most common etiologies of CH were malformation syndromes (n = 23, including Noonan n = 12) and maternal diabetes mellitus (n = 13).
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Chromosomal aberrations are an important cause of multiple malformation syndromes.
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Antley-Bixler syndrome (ABS) is a rare inherited autosome recessive malformation syndrome, which can be caused by the gene mutations of cytochrome P450 oxidoreductase (POR).
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8 %), complex malformation syndromes (n=37, 24.
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In this clinical report, we describe the implant-supported prosthetic treatment of a patient with cleidocranial dysplasia, a rare autosomal-dominant inherited malformation syndrome.
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The anomalies associated with ACC could be classified into a recognizable malformation syndrome in 29 out of the 73 cases (39.
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It is also observed in villi with normal-looking vasculature, especially in aneuploidy, malformation syndromes, polyhydramnios, fetal hydrops and more.
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Among fetuses with multiple malformation syndrome, 15.
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