Characterization of an Inherited Neurologic Syndrome in Toyger Cats with Forebrain Commissural Malformations, Ventriculomegaly and Interhemispheric Cysts. [PDF]
, 2016 BackgroundIn children, frequent congenital malformations with concomitant agenesis of the corpus callosum are diagnosed by neuroimaging in association with other cerebral malformations, including interhemispheric cysts and ventriculomegaly.
Creighton, EK +5 more
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DIO3 protects against thyrotoxicosis-derived cranio-encephalic and cardiac congenital abnormalities. [PDF]
JCI Insight, 2022 Martinez ME +5 more
europepmc +1 more source
ADHESIONS OF THE SIGMOID ASSOCIATED WITH CONGENITAL ABNORMALITY OF THE MESENTERY CAUSING CONSTIPATION. [PDF]
, 1919 J. P. Lockhart-Mummery, Drury Pennington
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Changes In angulation and phalangeal length of fingers and thumbs following surgical treatment for congenital clinodactyly [PDF]
, 2016 INTRODUCTION: Congenital clinodactyly is a condition characterized by the deviation of a digit or digits in the coronal plane. Angulation is often due to the presence of a delta phalanx.
Gordon, Alanna Alexandra
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Case of Congenital Abnormality of the Right Ureter [PDF]
, 1925 A. Clifford Morson
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A Pilot Study to Evaluate Neurodevelopmental Outcomes in a Pediatric Cohort With Genodermatoses
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Our study aimed to evaluate cognitive function in individuals with genetic skin disorders involving neuroectoderm (n = 8) compared to individuals with only ectoderm or mesoderm (n = 16) involvement. We hypothesized that neuroectodermal involvement would result in poorer neurocognitive performance.
Sneha A. Rangu +10 more
wiley +1 more source
Beyond the Syndrome: Extensive Congenital Abnormalities in an Infant With Trisomy 21. [PDF]
Clin Pathol, 2022 Ward JD +5 more
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT SATB2‐associated syndrome (SAS) is characterized by intellectual disability, neurodevelopmental disorders, cleft palate, and dental abnormalities. SAS is caused by variants in the special AT‐rich sequence‐binding protein 2 (SATB2), which encodes a transcription factor containing two CUT domains and a homeobox (HOX) domain.
Nao Ukita +5 more
wiley +1 more source
Klippel-Feil syndrome. When using fiberoptic bronchoscopy guide, a case report [PDF]
, 2017 Klippel-Feil syndrome is a rare disease with congenital musculoskeletal condition characterized by faulty segmentation of cervical vertebrae and consists of cervical vertebra fusions with limitation of head movements, short neck and low posterior ...
Bizzarri, Federico +8 more
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