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Malformation Syndrome sentence examples within Multiple Malformation Syndrome



Challenges in the Diagnosis and Consequential Management of Patients 46, XY DSD



Novel ARID1B variant inherited from somatogonadal mosaic mother in siblings with Coffin-Siris syndrome 1


Malformation Syndrome sentence examples within Congenital Malformation Syndrome



Late Discovery Caudal Regression Syndrome: A Case Report!



Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals


Malformation Syndrome sentence examples within Vascular Malformation Syndrome



Current Status of Clinical and Genetic Screening of Hereditary Hemorrhagic Telangiectasia Families in Hungary



Somatic Mosaicism in the Pathogenesis of de novo Cerebral Arteriovenous Malformations: A Paradigm Shift Implicating the RAS-MAPK Signaling Cascade




Malformation Syndrome sentence examples within Arteriovenou Malformation Syndrome



Treatment of capillary malformations in capillary malformation-arteriovenous malformation syndrome with pulsed dye laser.



Atypical capillary malformations with subsequent diplegia: A difficult case of capillary malformation‐arteriovenous malformation syndrome


Malformation Syndrome sentence examples within Capillary Malformation Syndrome



Megalencephaly-capillary malformation syndrome and associated hydrocephalus: treatment options and revision of the literature



The Fetus with Ganglionic Eminence Abnormality: Head Size and Extracranial Sonographic Findings Predict Genetic Diagnoses and Postnatal Outcomes


Malformation Syndrome sentence examples within Craniofacial Malformation Syndrome



[Saethre-Chotzen syndrome: a case report].



Genetics of craniofacial malformations.


Malformation Syndrome sentence examples within Complex Malformation Syndrome



A Chinese Boy with Mowat–Wilson Syndrome Caused by a 10 bp Deletion in the ZEB2 Gene



Prenatal Diagnosis of Fetal Growth Restriction With Polyhydramnios: Etiology and Impact on Postnatal Outcome


Malformation Syndrome sentence examples within Inherited Malformation Syndrome



Familial cleft tongue caused by a unique translation initiation codon variant in TP63.



Prosthetic rehabilitation of a patient with cleidocranial dysplasia using dental implants—a clinical report


Malformation Syndrome sentence examples within Skeletal Malformation Syndrome



Congenital heart defects and skeletal malformation syndrome with congenital hemiplegia



Steroidogenic electron-transfer factors and their diseases


Malformation Syndrome sentence examples within malformation syndrome characterized



Late Discovery Caudal Regression Syndrome: A Case Report!



[Saethre-Chotzen syndrome: a case report].


Malformation Syndrome sentence examples within malformation syndrome caused



Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals



Advance in diagnosis and treatment of craniofrontonasal syndrome


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10.36347/sjmcr.2021.v09i02.021

Late Discovery Caudal Regression Syndrome: A Case Report!



Evaluation of Pulmonary Hypoplasia in Various Congenital Anomalies with a Comparison of Two Conventional Methods of Assessment: Radial Alveolar Count (RAC) and Lung Weight: Body Weight Ratio (LBW).



Case Report of Idiopathic Masseteric Hypoplasia Treated With PMMA-Collagen Gel



Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome



[Saethre-Chotzen syndrome: a case report].



Genetics of craniofacial malformations.


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10.1210/JENDSO/BVAB048.1421

Challenges in the Diagnosis and Consequential Management of Patients 46, XY DSD



[Saethre-Chotzen syndrome: a case report].



Late endosomal/lysosomal accumulation of a neurotransmitter receptor in a cellular model of Smith‐Lemli‐Opitz syndrome



Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects



Megalencephaly-capillary malformation syndrome and associated hydrocephalus: treatment options and revision of the literature


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10.1016/j.yebeh.2021.108315

Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals


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10.18203/2349-3933.IJAM20211066

Congenital heart defects and skeletal malformation syndrome with congenital hemiplegia



Carrier frequency and incidence estimation of Smith–Lemli–Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis



Hypertrophic Cardiomyopathy in Children: Pathophysiology, Diagnosis, and Treatment of Non-sarcomeric Causes



Current Status of Clinical and Genetic Screening of Hereditary Hemorrhagic Telangiectasia Families in Hungary



A Chinese Boy with Mowat–Wilson Syndrome Caused by a 10 bp Deletion in the ZEB2 Gene



Recommendations on the first communication of genetic disease and malformation syndrome diagnosis: consensus issued by 6 Italian Scientific Societies and 4 Parents’ Associations



The Fetus with Ganglionic Eminence Abnormality: Head Size and Extracranial Sonographic Findings Predict Genetic Diagnoses and Postnatal Outcomes



Familial cleft tongue caused by a unique translation initiation codon variant in TP63.



A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome



Novel ARID1B variant inherited from somatogonadal mosaic mother in siblings with Coffin-Siris syndrome 1



Main Physical Features, Echocardiographic and Renal Ultrasonographic Findings of Turner Syndrome in 107 Pediatric Patients



Mythological figures in art and genetics: Current perspectives on cyclopia and chimerism


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10.1371/journal.pone.0253562

Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population



Somatic Mosaicism in the Pathogenesis of de novo Cerebral Arteriovenous Malformations: A Paradigm Shift Implicating the RAS-MAPK Signaling Cascade


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10.3760/cma.j.cn112140-20210222-00150

[ALPK3 gene-related pediatric cardiomyopathy with craniofacial-skeletal features: a report and literature review].



Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders



Feingold syndrome type 2 in a patient from China



Steroidogenic electron-transfer factors and their diseases



“Evidence for a cluster of rare birth defects in the Ain department (France)”: Reply to letters to the editors



Cleft palate lateral synechia syndrome in two patients and literature review.



Genetic and clinical heterogeneity in Korean patients with Rubinstein-Taybi syndrome.


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10.1007/978-3-030-73966-9_10

It Isn’t All About the Facial Features



A Recurrent Variant in POLR1B, c.3007C>T; p.Arg1003Cys, Associated with Atresia of the External Canal and Microtia in Treacher Collins Syndrome Type 4



Treatment of capillary malformations in capillary malformation-arteriovenous malformation syndrome with pulsed dye laser.



RELA Fusion-Positive Ependymoma in a Child with Down Syndrome: A Case Report



Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malformation syndrome diagnosis: consensus issued by 6 Italian scientific societies and 4 parents’ associations



Omphalocele—What should we tell the prospective parents?


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10.1007/978-3-030-46024-2_4

The Developmental Interrelation Between the Nervous System and Craniofacial Complex as Evidenced from Craniofacial Malformations



The etiology of cardiac hypertrophy in infants


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10.1097/MCD.0000000000000370

Rare chromosomal aberrations detected in children with multiple congenital anomalies: utility of multiple ligation dependant probe amplification for developing countries



Establishment of an induced pluripotent stem cell line from a Antley-Bixler Syndrome (ABS) patient with the homozygote mutation p.R457H (c.1370G>A) in POR gene.



Prenatal Diagnosis of Fetal Growth Restriction With Polyhydramnios: Etiology and Impact on Postnatal Outcome



Prosthetic rehabilitation of a patient with cleidocranial dysplasia using dental implants—a clinical report



Associated anomalies in cases with agenesis of the corpus callosum


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10.1007/978-3-319-97214-5_19

Mineralization of Trophoblast Basement Membrane



Role of Autopsy in Diagnosis and Genetic Counselling of Congenital Malformations: a Prospective Analytical Study


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10.1136/rapm-2019-ESRAABS2019.437

ESRA19-0377 Anaesthetic challenges in an adolescent with congenital bilateral tibia-fibula amelia with hip dysplasia for hernia repair



Front & Back Matter



[Brachydactyly and the molecular mechanisms of digit formation].



Craniofacial malformations and their association with brain development: the importance of a multidisciplinary approach for treatment



Duplication of The SOX3 Gene in an Sry-negative 46,XX Male with Associated Congenital Anomalies of Kidneys and the Urinary Tract: Case Report and Review of the Literature



In This Issue



Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations



First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics



6-(2,3-Dichlorodiphenyl)-1,2,4-Triazine-3,5-Diamine Use in Pregnancy and Body Stalk Anomaly- A Possible Association?



Post-mortem Characterisation of a Case With an ACTG1 Variant, Agenesis of the Corpus Callosum and Neuronal Heterotopia



SUN-049 Growth Hormone Deficiency Associated with a Rare Overgrowth Syndrome



Servelle–Martorell syndrome


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10.3760/CMA.J.ISSN.1009-4598.2019.06.019

Advance in diagnosis and treatment of craniofrontonasal syndrome



Atypical capillary malformations with subsequent diplegia: A difficult case of capillary malformation‐arteriovenous malformation syndrome



Establishment of immunity against Epstein‐Barr virus infection in a patient with CHARGE/complete DiGeorge syndrome after peripheral blood lymphocyte transfusion


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10.1136/archdischild-2018-315366

Outcomes following general anaesthesia in children with hypertrophic cardiomyopathy



Suboccipital Craniotomy for Resection of a Dorsal Medullary Cerebral Cavernous Malformation: 2-Dimensional Operative Video.



Prenatal sonographic diagnosis of limb body wall complex: A rare lethal fetal anomaly



Prenatal ultrasound‐based diagnosis of fetal OEIS complex associated with lower limb polymelia and cardiac, hepatic dysplasia: A case report


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10.26326/2281-9649.29.2.1984

Port-wine stain present at birth in the child, acquired in the father.



Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?



Congenital malformation syndromes associated with peripheral neuroblastic tumors: A systematic review



Hypermobility in individuals with Kabuki syndrome: The effect of growth hormone treatment



Rasopathies case report: concurrence of two pathogenic variations de novo in NF1 and KRAS genes in a patient



Hypogonadotrophic hypogonadism, delayed puberty and risk for neurodevelopmental disorders



Rasopathies case report: concurrence of two pathogenic variations de novo in NF1 and KRAS genes in a patient.



Loss of function of Kmt2d, a gene mutated in Kabuki syndrome, affects heart development in Xenopus laevis



Klinische Syndromologie



Growth hormone deficiency in megalencephaly‐capillary malformation syndrome: An association with activating mutations in PIK3CA


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10.1097/SCS.0000000000005127

Modified Posterolateral Approach for Pterygium Colli


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