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1.
Neuroimaging Clin N Am ; 33(4): 623-641, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37741662

RESUMEN

In this article, we will discuss the essential MR imaging protocol required for the assessment of ocular abnormalities including malignancies. Then we will describe relevant anatomy, ocular embryogenesis, and genetics to establish a profound understanding of pathophysiology of the congenital ocular malformations. Finally, we will discuss pediatric ocular malignancies, benign mimics, and the most common congenital ocular malformations with case examples and illustrations and give tips on how to distinguish these entities on neuroimaging.


Asunto(s)
Desarrollo Embrionario , Neuroimagen , Niño , Humanos
2.
Neuroimaging Clin N Am ; 33(4): 643-659, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37741663

RESUMEN

In this article, we will describe relevant anatomy and imaging findings of extraocular and orbital rim pathologic conditions. We will highlight important clinical and imaging pearls that help in differentiating these lesions from one another, and provide a few practical tips for challenging cases.

3.
Psychiatr Genet ; 33(4): 164-B2, 2023 08 01.
Artículo en Inglés | MEDLINE | ID: mdl-37463393

RESUMEN

Malpuech-Michels-Mingarelli-Carnevale (3MC) syndrome, is a rare genetic condition resulting from the combination of four autosomal recessive syndromes which were classified as separate syndromes earlier. 3MC syndrome may be accompanied by a range of other conditions including cleft lips and palate, blepharophimosis, blepharoptosis, downward-sloping palpebral fissures, hypertelorism, facial dysmorphism such as high arched eyebrows, growth retardation, hearing impairment, genital anomalies, elongated coccyx, caudal appendage, radioulnar synostosis and skeletal conditions such as craniosynostosis. The prominent causes of 3MC syndrome include homozygous mutations in the MASP1, COLEC10, or COLEC11 genes. Few cases with 3MC syndrome have been reported in the literature. Here we present a case of 11-year-old girl with 3 MC syndrome in comorbidity with attention deficit hyperactivity disorder, oppositional defiant disorder, and major depressive disorder.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad , Trastorno Depresivo Mayor , Humanos , Femenino , Niño , Trastorno por Déficit de Atención con Hiperactividad/complicaciones , Trastorno Depresivo Mayor/complicaciones , Mutación
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