scholarly journals A 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows

2018 ◽  
Vol 57 (4) ◽  
pp. 583-587 ◽  
Author(s):  
Chih-Ping Chen ◽  
Shuan-Pei Lin ◽  
Schu-Rern Chern ◽  
Peih-Shan Wu ◽  
Shin-Wen Chen ◽  
...  
Author(s):  
G S Kadakol ◽  
Gavishiddappa Hadimani ◽  
Shankar V Patil ◽  
Rudragouda S Bulagouda

Turner syndrome (TS) is a common chromosomaldisorder. Turner syndrome (TS) also known as Ulrich–Turner syndrome, gonadal dysgenesis and 45, X, is a condition in which a female is partly or completely missing an X chromosome.The main clinical features of TS are Swollen hands and feet,Wide and webbed neck, a combination of the following symptoms may be seen in older females:Absent or incomplete development at puberty, including sparse pubic hair and small breasts broad, flat chest shaped like a shield, drooping eyelids, Turner Syndrome frequently seen  in young infants.Our case of a 10-year-old girl has TS-specific clinical hallmarks,with the symptoms of short stature, wide barred shaped chest drooping eyelids. She visited our hospital because of her neck swelling, pain in on /off condition since one month. In our study we reported both clinically & cytogenetic investigation which shows a patient is suffering from Turner Syndrome. This type of Syndrome is very rare in this region.Keywords:Turner Syndrome,   Short Stature,Chromosome Analysis


2017 ◽  
Vol 64 (5) ◽  
pp. 499-505 ◽  
Author(s):  
Satsuki Nishigaki ◽  
Takashi Hamazaki ◽  
Akitoshi Tsuruhara ◽  
Toshiko Yoshida ◽  
Takuji Imamura ◽  
...  

Author(s):  
Ella Nissan ◽  
Uriel Katz ◽  
Yael Levy-Shraga ◽  
Shirly Frizinsky ◽  
Eldar Carmel ◽  
...  

2013 ◽  
Vol 33 (1) ◽  
pp. 74-76
Author(s):  
S Basnet ◽  
A Eleena ◽  
AK Sharma

Many children are frequently brought to the paediatric clinic for evaluation of short stature. Evaluation for these children does not go beyond x-ray for bone age estimation and growth hormone analysis. Most of them are considered having constitutional or genetic cause for their short stature. However, shuttle dysmorphic features could be missed in many of them. Hence, many children might be having chromosomal anomaly as an underlying cause. We report a case of 40 months who had been evaluated several times in the past for pneumonia, otitis media and short stature is finally diagnosed to have Turner syndrome. DOI: http://dx.doi.org/10.3126/jnps.v33i1.8174 J Nepal Paediatr Soc. 2013;33(1):74-76


2019 ◽  
Vol 70 (4) ◽  
pp. 342-349 ◽  
Author(s):  
Jakub Frelich ◽  
Tomasz Irzyniec ◽  
Katarzyna Lepska ◽  
Wacław Jeż

Author(s):  
Anna Krawczyk

Turner syndrome (TS) is a chromosomal abnormality that affects exclusively girls and always results in a short stature . This article is based on an ethnographic research whose main objective was to look into the narratives and daily practices of Polish girls diagnosed with TS . The article describes strategies adopted towards the bodily manifes- tations of TS in everyday life of Polish teenagers diagnosed with this condition . In this paper, I explore the meanings and practices around normalization of Turner Syndrome which are being negotiated in the process of socialization of children with TS .    


2018 ◽  
Vol 96 (10) ◽  
pp. 1631-1640 ◽  
Author(s):  
Guido Maria Lattanzi ◽  
Antonino Buzzanca ◽  
Marianna Frascarelli ◽  
Fabio Di Fabio

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