نتایج جستجو برای: hypotelorism

تعداد نتایج: 58  

2000

EDITOR—Deletions of 4p16.3 have attracted considerable attention, particularly since the introduction of FISH and molecular techniques, and are associated with a variety of clinical pictures. Although all aVected subjects are mentally retarded, this can vary from profound to mild and the physical manifestations may be those of the severe, often fatal, Wolf-Hirschhorn syndrome (WHS) or of the re...

2000

EDITOR—Deletions of 4p16.3 have attracted considerable attention, particularly since the introduction of FISH and molecular techniques, and are associated with a variety of clinical pictures. Although all aVected subjects are mentally retarded, this can vary from profound to mild and the physical manifestations may be those of the severe, often fatal, Wolf-Hirschhorn syndrome (WHS) or of the re...

Journal: :Journal of medical genetics 2000
K Fagan V Soubjaki P Donald G Turner M Partington

EDITOR—Deletions of 4p16.3 have attracted considerable attention, particularly since the introduction of FISH and molecular techniques, and are associated with a variety of clinical pictures. Although all aVected subjects are mentally retarded, this can vary from profound to mild and the physical manifestations may be those of the severe, often fatal, Wolf-Hirschhorn syndrome (WHS) or of the re...

2000

EDITOR—Deletions of 4p16.3 have attracted considerable attention, particularly since the introduction of FISH and molecular techniques, and are associated with a variety of clinical pictures. Although all aVected subjects are mentally retarded, this can vary from profound to mild and the physical manifestations may be those of the severe, often fatal, Wolf-Hirschhorn syndrome (WHS) or of the re...

2015

Methods The patient is a para 1, who had an uncomplicated vaginal delivery at term five years ago. There were no significant family history, with the absence of genetic risk factors. The patient was treated for a schizoaffective disorder with quetiapine and sertraline. During the pregnancy, methyldopa and metoprolol were added in the 22nd week, after the development of gestational hypertension....

Journal: :International Journal of Medical Sciences 2005
Andrew E. Czeizel

Editorial Birth defects – or by according to the World Health Organization's (WHO) term: congenital anomalies – are structural, functional and/or biochemical-molecular defects present at birth whether detected at that time or not (Figure 1). Among different categories of birth defects, congenital abnormalities, i.e. structural-morphological defects represent the largest one. Congenital abnormal...

2017
Alessandro Borghi Silvia Schievano David Dunaway

One can organize the myriad techniques for managing sagittal synostosis-induced scaphocephaly in a 2 × 2 table according to dynamic and static techniques on one axis and compressive and decompressive procedures on the other, and perhaps even include a third axis for open extensile versus minimal access exposures. The idea of using a dynamic, minimal access decompressive technique is very appeal...

Journal: :Neurosciences 2006
Badreldeen Ahmed Najat Khenyab Najah Saleh Wiku Andonotopo Aliaa Makkiya

C is characterized as the early closure of the calvarial sutures.1 The classification of skull malformations in craniosynostosis is based on the sutures involved.1 Craniosynostosis involves approximately one infant in 2000 live births. More than 150 different types of craniosynostosis have been described and most isolated cases of craniosynostosis have multifactorial or sporadic inheritance,2 a...

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