Expanding Phenotype of Fetal Hydantoin Syndrome

PEDIATRICS ◽  
1982 ◽  
Vol 70 (2) ◽  
pp. 328-329
Author(s):  
Boris G. Kousseff ◽  
Edward R. Root

We read with interest the article by Bartoshesky et al1 on ophthalmic and lethal cardiac malformations in the newborn exposed to diphenylhydantoin in utero. The article makes an important point about previously undescribed clinical features of fetal hydantoin syndrome and emphasizes the generalized effect of diphenylhydantoin as a teratogen. To elaborate further on this point, we wish to share our clinical observations in two patients with fetal hydantoin syndrome. One patient,2 a male (Figure), showed subcutaneous vascular abnormalities (cystic hygromas, telangiectasias, and capillary phlebectasias) on the anterior neck and both axillae, in addition to developmental delay, esotropia, epicanthal folds, high palate, triphalangeal thumbs, hypoplastic nails, inguinal hernia, and seven arches on the fingertips.

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
G. Márquez Balbás ◽  
M. A. González-Enseñat ◽  
A. Vicente ◽  
L. Creus-Vila ◽  
J. Antón ◽  
...  

Incontinentia pigmenti (IP) is an uncommon X-linked dominant multisystem disorder, lethal in the majority of affected males in utero and variably expressed in females. The cutaneous manifestations are diagnostic and classically occur in four stages: vesicular, verrucous, hyperpigmented, and atrophic. The skin lesions are typically spread along the lines of Blaschko, and they are usually present at birth. It may be variably accompanied by dental, ocular, neurologic, bones and joints, and development anomalies. The genes IP has been mapped to Xq28. Mutations in the NEMO/IKKγ gene, located at Xq28, have been found to cause expression of the disease. Behçets disease is a multisystem disorder consisting of recurrent oral aphtae, genital ulcers, pustular skin eruption, and uveitis. Occasionally there are other articular, neurological, intestinal, or vascular abnormalities. This disease is rare in children. Here, we report a case of a 16-year-old female with the rare combination of incontinentia pigmenti and an aphthosis bipolar, and we discuss the probably relationship between these two diseases.


2020 ◽  
Vol 135 ◽  
pp. 118S-119S
Author(s):  
Kay Roussos-Ross ◽  
Victoria Dukharan ◽  
Amie Goodin
Keyword(s):  

2009 ◽  
Vol 36 (1) ◽  
pp. 19-26
Author(s):  
Takao Sekiya ◽  
Haruki Nishizawa ◽  
Naomi Ozawa ◽  
Shin Tada ◽  
Kiyoshi Hasegawa ◽  
...  

1995 ◽  
Vol 5 (2) ◽  
pp. 77-85 ◽  
Author(s):  
N. E. Budorick ◽  
D. H. Pretorius ◽  
J. P. McGahan ◽  
M. R. Grafe ◽  
H. E. James ◽  
...  
Keyword(s):  

1991 ◽  
Vol 13 (2) ◽  
pp. 195-202 ◽  
Author(s):  
Mei-Lin Yu ◽  
Chen-Chin Hsu ◽  
Beth C. Gladen ◽  
Walter J. Rogan
Keyword(s):  

2016 ◽  
Vol 59 (1) ◽  
pp. 39-42 ◽  
Author(s):  
Rosamaria Silipigni ◽  
Elisa Cattaneo ◽  
Marco Baccarin ◽  
Monica Fumagalli ◽  
Maria Francesca Bedeschi

2021 ◽  
Vol 9 (2) ◽  
pp. 367-373
Author(s):  
Veeresh S. M ◽  
Mohan Kumari K. M

Amlapitta is one of the Annavahasroto vikara (gastrointestinal system) described in many classical Ayur-vedic texts. Modern luxurious lifestyle and sendentary habits of people have been inviting so many diseas-es like Prameha (Diabetis), Amavata (Arthritis), Amlapitta (Gastritis) etc. The cardinal features of Amlapit-ta includes utklesha (nausea), hritdaha (heartburn), kantadaha (throat burn), amlodgara (sour and bitter belching), chardi (vomiting), kukshidaha (abdominal burn) etc. The present study was taken up to evaluate efficacy of Kadali kanda churna and Kadali kanda kwatha in Urdwaga Amlapitta (Functional dyspepsia). A total of 20 patients having clinical features of Urdwaga Amlapitta were selected and randomly divided into 2 groups with 10 patients each. Group A was treated with Kadali kanda churna and Group B was treated with Kadali kanda kwatha. Subjective parameters were suitably graded to assess the results based on the clinical observations. Statistical tests were applied to analyze the results. In the present study it was observed that the percentage of success of Group A was 93.75% and that of Group B was 65%. Group A showed better results when compared to Group B.


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