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Congenital and developmental abnormalities

CONGENITAL ASYMMETRY: REPORT OF 10 CASES WITH ASSOCIATED DEVELOPMENTAL ABNORMALITIES

CONGENITAL ASYMMETRY: REPORT OF 10 CASES WITH ASSOCIATED DEVELOPMENTAL ABNORMALITIES

... Associated abnormalities described include two ABNORMALITIES, ADRENAL NEOPLASMS, MO5AICISM, instances of adrenal neoplasm, one case of bilateral UROGENITAL SYSTEM ABNORMALITIES, KIDNEY A[r] ...

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DEVELOPMENTAL ABNORMALITIES OF MULLERIAN DUCT- A REVIEW .......

DEVELOPMENTAL ABNORMALITIES OF MULLERIAN DUCT- A REVIEW .......

... nital abnormalities in ...the congenital abnormalities of the female reproductive tract resulting from failure in the development of the Mullerian ducts and their as- sociated ...

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Incidental imaging findings of congenital rib abnormalities – a case series and review of developmental concepts

Incidental imaging findings of congenital rib abnormalities – a case series and review of developmental concepts

... and abnormalities of the C7 transverse process and of the first rib, while the other costal malformations were distinguished from tumoural, traumatic or inflammatory lesions of the chest wall, lung and ...rib ...

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Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay

Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay

... Conclusion Two sub-microscopic deletions resulted from this appar- ently balanced CCR. Microdeletion within the ROBO1 gene with potential activity-dependent roles in neurons may have played a role in our patient’s ...

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Epigenetics in congenital diseases and pervasive developmental disorders

Epigenetics in congenital diseases and pervasive developmental disorders

... of congenital syndromes and ...in congenital neurodevelopmental diseases but also in acquired diseases, including pervasive develop- mental disorders, through gene–environmental ...of congenital dis- ...

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A de novo triplication on 2q22.3 including the entire ZEB2 gene associated with global developmental delay, multiple congenital anomalies and behavioral abnormalities

A de novo triplication on 2q22.3 including the entire ZEB2 gene associated with global developmental delay, multiple congenital anomalies and behavioral abnormalities

... Discussion ZEB2 gene mutations or deletions cause Mowat-Wilson syndrome through a haploinsufficiency mechanism, but little is known about the clinical significance of ZEB2 copy number gain. In this study, we report a ...

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Ocular abnormalities in congenital Zika syndrome: a case report, and review of the literature

Ocular abnormalities in congenital Zika syndrome: a case report, and review of the literature

... visual developmental mile- stones expected for their age ...ocular abnormalities seen in CZS interfere with development of binocular vision and stereopsis in these infants, and all infants with CZS will ...

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Motor Abnormalities and Epilepsy in Infants and Children With Evidence of Congenital Zika Virus Infection

Motor Abnormalities and Epilepsy in Infants and Children With Evidence of Congenital Zika Virus Infection

... with congenital ZIKV infection will have complex and potentially multiple developmental disabilities in addition to epilepsy and motor ...with developmental disabilities, which include CP and ...

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MR Imaging of Congenital or Developmental Neuropathic Strabismus: Common and Uncommon Findings

MR Imaging of Congenital or Developmental Neuropathic Strabismus: Common and Uncommon Findings

... Orbital abnormalities consisted of EOM hypoplasia and hypertrophy, as well as the presence of an orbital fibrotic ...rare abnormalities that have never been reported as causes of congenital or ...

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Risk and Prevalence of Developmental Delay in Young Children With Congenital Heart Disease

Risk and Prevalence of Developmental Delay in Young Children With Congenital Heart Disease

... CONCLUSIONS DDs in children with CHD are common and should be expected. Both subjects with 1V anatomy and those with 2V anatomy are at risk. The presence of feeding dif fi culty, poor growth, medical comorbidities, ...

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Classification of congenital abnormalities of the CNS

Classification of congenital abnormalities of the CNS

... Our classification is based on the morphologic abnormalities shown by MR and on the time at which the derangement of neural development occurred.. A classification based [r] ...

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CONGENITAL ABNORMALITIES IN PROTEIN SYNTHESIS

CONGENITAL ABNORMALITIES IN PROTEIN SYNTHESIS

... This is supported by recent findings in mice indicating that the accumulation of copper in Wilson’s disease is not due to an increased absorption of cop- per as had been thought, but rat[r] ...

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CONGENITAL ABNORMALITIES OF INTESTINAL INNERVATION

CONGENITAL ABNORMALITIES OF INTESTINAL INNERVATION

... The possibility that normal development of myenteric ganglia depends upon orderly migration of pre- and postganglionic fibers into the intestinal wall is suggested both by the experiment[r] ...

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Congenital Abnormalities of the Temporomandibular Joint - single conditions

Congenital Abnormalities of the Temporomandibular Joint - single conditions

... Stangret Anna, Mularczyk Agata, Szczęśniak Angelika, Topczewska Katarzyna, Rogulska Karolina. Congenital Abnormalities of the Temporomandibular Joint - single conditions. Journal of Education, Health and ...

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Cardiovascular Abnormalities Associated With Congenital Diaphragmatic Hernia

Cardiovascular Abnormalities Associated With Congenital Diaphragmatic Hernia

... Lesions such as hypoplastic left heart, endocardial cushion defect, tetralogy of Fallot, and transposi- tion of the great arteries are easily diagnosed by echocardiography.”4#{176} We ha[r] ...

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Extracardiac Abnormalities in Infants With Congenital Heart Disease

Extracardiac Abnormalities in Infants With Congenital Heart Disease

... Examination of Table I reveals that ECA occur in 25% or more of infants with simple ventricular septal defect, patent ductus arteriosus, tetralogy of Fallot, complex coarctation, complex[r] ...

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Beyond bronchitis: a review of the congenital and acquired abnormalities of the bronchus

Beyond bronchitis: a review of the congenital and acquired abnormalities of the bronchus

... different congenital aberrations of the bronchial anatomy are commonly encountered including tra- cheal bronchus, accessory cardiac bronchus, and bronchial ...other congenital condi- tions that result in ...

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Congenital Abnormalities of the Lymphatic System: A New Clinical Classification

Congenital Abnormalities of the Lymphatic System: A New Clinical Classification

... Congenital abnormalities of the lymphatic sys- tem may be diagnosed when an infant or a child presents with a single abnormal function of the lymphatics; the presentation will depend on [r] ...

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CONGENITAL ABNORMALITIES OF AMINO ACID TRANSPORT IN RENAL TUBULES

CONGENITAL ABNORMALITIES OF AMINO ACID TRANSPORT IN RENAL TUBULES

... Infantile de Toni syndrome Milkman’s syndrome Vitamin D resistant rickets Buphthalmos and organic aciduria Pyruvic aciduria with steatorrhea Luder and Sheldon syndrome Tyrosinosis.. Alca[r] ...

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CONGENITAL ABNORMALITIES OF PULMONARY VESSELS AND THEIR RELATION TO MALFORMATIONS OF THE LUNG

CONGENITAL ABNORMALITIES OF PULMONARY VESSELS AND THEIR RELATION TO MALFORMATIONS OF THE LUNG

... ily)Oplastic nigilt lung witil a small night pul- monary artery and anomalous venous drain- age of tile nigilt lung into a scimitar-shaped. vein wllich entered the inferior vena cava[r] ...

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