Rakstu tulkošanu var veikt tikai reģistrēti lietotāji
Ielogoties Reģistrēties
We report on two sibs, brother and sister, with a multiple congenital anomaly/mental retardation syndrome consisting of severe growth and mental retardation, seizures, retinal abnormalities, osteodysplasia, brachydactyly, prognathism, and dental malocclusion. These clinical findings were present in
Rakstu tulkošanu var veikt tikai reģistrēti lietotāji
Ielogoties Reģistrēties
We identified a family with three males in two generations with moderate mental retardation. The two oldest were first cousins whose mothers were sisters. The third affected was a grandson through a daughter of one of the sisters, strongly suggesting X- linked inheritance. The affected males had
Rakstu tulkošanu var veikt tikai reģistrēti lietotāji
Ielogoties Reģistrēties
We describe a French young man with digital anomalies consisting of brachydactyly, F1-5 bilateral camptodactyly, interdigital webbing, F5 bilateral radial clinodactyly, and partial syndactyly of some fingers and toes. He had psychomotor retardation, short stature, umbilical hernia, a secundum atrial
Rakstu tulkošanu var veikt tikai reģistrēti lietotāji
Ielogoties Reģistrēties
The clinical findings in 12 Angelman syndrome (AS) patients (4 sib pairs and 4 sporadic cases, aged 12-55 years) without a cytogenetic or molecular detectable defect at the AS locus were compared to those of 28 AS patients (aged 11-50 years) with a deletion, in order to determine whether the
Rakstu tulkošanu var veikt tikai reģistrēti lietotāji
Ielogoties Reģistrēties
Two sibs with partial trisomy-5p are reported. Their father is the carrier of a balanced translocation 46,XY,t(4q+;5p-). Twelve cases of partial trisomy-5p--including our two patients--have been reported. The most common abnormalities found were mental retardation, short stature, dolichocephaly,
Rakstu tulkošanu var veikt tikai reģistrēti lietotāji
Ielogoties Reģistrēties
The Angelman ('happy puppet') syndrome is clinically characterized by severe mental retardation without any development of speech, a happy disposition with paroxysms of laughter, a stiff-atactic gait with arms in flexion and abduction, epileptic seizures, EEG-abnormalities, and some dysmorphic
Rakstu tulkošanu var veikt tikai reģistrēti lietotāji
Ielogoties Reģistrēties
Angelman's or "happy puppet" syndrome is a disorder of unknown etiology characterized by severe or profound mental retardation with deepest involvement of language, frequent smile and laughter and a happy appearance of every patient. Constant somatic features are microcephaly with braquicephaly,
Rakstu tulkošanu var veikt tikai reģistrēti lietotāji
Ielogoties Reģistrēties
Fourteen children (of Arab ethnic origin) with Sotos syndrome are described. They were referred to King Khalid University Hospital, Riyadh between July 1992 and June 1997. Their phenotypic characteristics were compared with established diagnostic criteria. There was a male:female ratio of 1.3:1 and
Rakstu tulkošanu var veikt tikai reģistrēti lietotāji
Ielogoties Reģistrēties
Pallister-Killian syndrome (PKS) is a rare sporadic multi-systemic developmental disorder caused by a mosaic tetrasomy of the short arm of chromosome 12. A wide range of clinical characteristics including intellectual disability, seizures, and congenital malformations has previously been described.
Rakstu tulkošanu var veikt tikai reģistrēti lietotāji
Ielogoties Reģistrēties
A new type of non-specific X linked mental retardation is described in a three generation family. The three affected males had severe mental retardation (IQ 20 to 30), mutism, growth failure, frequent infections, seizures, and the following minor anomalies: brachycephaly, frontal hair whorl, square
Rakstu tulkošanu var veikt tikai reģistrēti lietotāji
Ielogoties Reģistrēties
Angelman's syndrome (AS) is a genetic neurodevelopment disorder. The cause is a known abnormality involving the maternal inherited ubiquitin-protein ligase (UBE3A) gene. Clinical characteristics universal to the disorder are well documented in the literature and include developmental delay,
Rakstu tulkošanu var veikt tikai reģistrēti lietotāji
Ielogoties Reģistrēties
Pallister-Killian syndrome is a rare disorder characterized by multiple congenital anomalies, coarse face, pigmentary skin changes, seizures, severe mental retardation, and the presence of an extra metacentric chromosome i(12p) confined to skin fibroblasts only. Here, we report on an unusual case of
Rakstu tulkošanu var veikt tikai reģistrēti lietotāji
Ielogoties Reģistrēties
KIAA2022 is an X-linked intellectual disability (XLID) syndrome affecting males more severely than females. Few males with KIAA2022 variants and XLID have been reported. We present a clinical report of two unrelated males, with two nonsense KIAA2022 pathogenic variants, with profound intellectual
Rakstu tulkošanu var veikt tikai reģistrēti lietotāji
Ielogoties Reģistrēties
BACKGROUND
We undertook this study in order to determine the pattern and prevalence of childhood psoriasis in northern India and to highlight the differences and similarities with previous studies.
METHODS
In this retrospective epidemiologic study, the data from 419 children (less than 14 years of
Vispilnīgākā ārstniecības augu datu bāze, kuru atbalsta zinātne
Darbojas 55 valodās
Zāļu ārstniecības līdzekļi, kurus atbalsta zinātne
Garšaugu atpazīšana pēc attēla
Interaktīva GPS karte - atzīmējiet garšaugus atrašanās vietā (drīzumā)
Lasiet zinātniskās publikācijas, kas saistītas ar jūsu meklēšanu
Meklēt ārstniecības augus pēc to iedarbības
Organizējiet savas intereses un sekojiet līdzi jaunumiem, klīniskajiem izmēģinājumiem un patentiem
Ierakstiet simptomu vai slimību un izlasiet par garšaugiem, kas varētu palīdzēt, ierakstiet zāli un redziet slimības un simptomus, pret kuriem tā tiek lietota. * Visa informācija ir balstīta uz publicētiem zinātniskiem pētījumiem