Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial features

2015 ◽  
Vol 170 (3) ◽  
pp. 712-716 ◽  
Author(s):  
Graeme A. M. Nimmo ◽  
Andrea Guerin ◽  
Ramses Badilla-Porras ◽  
Dimitri J. Stavropoulos ◽  
Grace Yoon ◽  
...  
PEDIATRICS ◽  
1989 ◽  
Vol 84 (1) ◽  
pp. 197-197
Author(s):  
ALEXANDER K. C. LEUNG ◽  
ROBERT G. MCARTHUR

Since our letter was printed in January 1989, we have come across an additional example of thyroxine-binding globulin (TBG) excess associated with hypothyroidism. In a recent article, Menon reported the case of a 21-month-old boy with developmental and growth delay and other clinical features of hypothyroidism. Investigations confirmed the diagnosis of hypothyroidism: serum thyroxine (T4) 28 nmol/L (normal range 60 to 140 nmol/L), thyroid-stimulating hormone (TSH) 100 mU/L (normal range 2 to 10 mU/L), and bone age 4 months.


2021 ◽  
pp. 112067212110609
Author(s):  
Manju R Pillai ◽  
Srilekha Pallamparthy ◽  
Subathra Gnanavelu

A case of 12-year-old male with Seckel syndrome, presented with unilateral glaucoma leading to advanced disc damage hence, visual deterioration. Seckel syndrome being a rare inherited disorder characterized by growth delay and unique facial features, had been infrequently reported for ophthalmic anifestation especially glaucoma. Though glaucoma is a rare association in Seckel syndrome, screening at an early stage could help in preventing vision loss.


2016 ◽  
Vol 75 (3) ◽  
pp. 133-140
Author(s):  
Robert Busching ◽  
Johannes Lutz

Abstract. Legally irrelevant information like facial features is used to form judgments about rape cases. Using a reverse-correlation technique, it is possible to visualize criminal stereotypes and test whether these representations influence judgments. In the first step, images of the stereotypical faces of a rapist, a thief, and a lifesaver were generated. These images showed a clear distinction between the lifesaver and the two criminal representations, but the criminal representations were rather similar. In the next step, the images were presented together with rape scenarios, and participants (N = 153) indicated the defendant’s level of liability. Participants with high rape myth acceptance scores attributed a lower level of liability to a defendant who resembled a stereotypical lifesaver. However, no specific effects of the image of the stereotypical rapist compared to the stereotypical thief were found. We discuss the findings with respect to the influence of visual stereotypes on legal judgments and the nature of these mental representations.


2014 ◽  
Author(s):  
Kathy Espino-Perez ◽  
Ryan Folliott ◽  
Brandon K. Brown ◽  
Debbie S. Ma

2011 ◽  
Author(s):  
Lieke Curfs ◽  
Rob Holland ◽  
Jose Kerstholt ◽  
Daniel Wigboldus
Keyword(s):  

2009 ◽  
Vol 8 (3) ◽  
pp. 887-897
Author(s):  
Vishal Paika ◽  
Er. Pankaj Bhambri

The face is the feature which distinguishes a person. Facial appearance is vital for human recognition. It has certain features like forehead, skin, eyes, ears, nose, cheeks, mouth, lip, teeth etc which helps us, humans, to recognize a particular face from millions of faces even after a large span of time and despite large changes in their appearance due to ageing, expression, viewing conditions and distractions such as disfigurement of face, scars, beard or hair style. A face is not merely a set of facial features but is rather but is rather something meaningful in its form.In this paper, depending on the various facial features, a system is designed to recognize them. To reveal the outline of the face, eyes, ears, nose, teeth etc different edge detection techniques have been used. These features are extracted in the term of distance between important feature points. The feature set obtained is then normalized and are feed to artificial neural networks so as to train them for reorganization of facial images.


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