نتایج جستجو برای: cornelia de lange syndrome
تعداد نتایج: 2119570 فیلتر نتایج به سال:
BACKGROUND The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in Cornelia de Lange syndrome (CdLS). However, the profile and developmental trajectories of these ASD characteristics are potentially different to those observed in individuals with idiopathic ASD. In this study we examine the ASD profile in CdLS in comparison to a matched group of individuals with...
C ornelia de Lange syndrome (CdLS, also called Brachmann de Lange syndrome; OMIM 122470) is characterised by preand postnatal growth retardation, microcephaly, severe mental retardation with speech delay, feeding problems, major malformations including limb defects, and characteristic facial features. Facial dysmorphism includes arched eyebrows, synophrys, short nose with anteverted nares, long...
BACKGROUND Brachmann de Lange syndrome (BDLS) is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, prenatal and postnatal growth deficiency, psychomotor delay, behavioral problems, and malformations of the upper extremities. CASE PRESENTATION Here we present for the first time a case of BDLS from Sudan, a 7-month-old female infant, who was referred as a ...
A 4 month old male infant was referred to the genetic clinic for investigation of 'odd facies'. He had been admitted to the paediatric ward with respiratory infection and septicaemia. He was the first child of consanguineous parents (first cousins), born after 40 weeks of gestation. There was no history or suggestion of exposure to teratogens or infection during the pregnancy and delivery was n...
D Beltran-Valero de Bernabé, T Voit, C Longman, A Steinbrecher, V Straub, Y Yuva, R Herrmann, J Sperner, C Korenke, C Diesen, W B Dobyns, H G Brunner, H van Bokhoven, M Brockington, F Muntoni . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ....
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