Primordial dwarfism: overview of clinical and genetic aspects
Primordial dwarfism is a group of genetic disorders which include Seckel Syndrome, Silver–
Russell Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism types I/III, II and …
Russell Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism types I/III, II and …
Central nervous system vasculopathy and Seckel syndrome: case illustration and systematic review
O Khojah, S Alamoudi, N Aldawsari, M Babgi… - Child's Nervous …, 2021 - Springer
Purpose To systematically review reported cases of Seckel syndrome (SS) and point out
cases associated with central nervous system (CNS) vasculopathy and provide a summary …
cases associated with central nervous system (CNS) vasculopathy and provide a summary …
A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder
GMH Abdel‐Salam, N Miyake, MM Eid… - American journal of …, 2011 - Wiley Online Library
The designation microcephalic osteodysplastic primordial dwarfism (MOPD) refers to a
group of autosomal recessive disorders, comprising microcephaly, growth retardation, and a …
group of autosomal recessive disorders, comprising microcephaly, growth retardation, and a …
Seckel syndrome with cutaneous pigmentary changes: two siblings and a review of the literature
A Kilic, SK Çakmak, T Tuncali, O Koz… - … in Dermatology and …, 2015 - termedia.pl
The patient had developmental difficulties by birth, especially about weight gain. On general
examination, she had an abnormal short stature with a weight of 25 kg and height of 135 cm …
examination, she had an abnormal short stature with a weight of 25 kg and height of 135 cm …
[PDF][PDF] Skeletal and Neurological Features of Seckel Syndrome and Microcephalic Osteodysplastic Primodrial Dwarfism–A Review of the Literature
AA Mona, K Ingo, FS Friederike, K Katja… - American Journal of …, 2020 - researchgate.net
Backround: Primordial dwarfism is a rare disease pattern that is notable due to its clinical
appearance. The first description was made in 1960 and created the initial image of the" bird …
appearance. The first description was made in 1960 and created the initial image of the" bird …
Syndromes with Hypomelanosis
C Tan, WY Zhu - Atlas of Pigmentary Skin Disorders, 2023 - Springer
Syndromes with hypomelanosis are introduced: Alezzandrini syndrome, Chediak–Higashi
syndrome, Griscelli syndrome, Hermansky–Pudlak syndrome, Menkes kinky hair syndrome …
syndrome, Griscelli syndrome, Hermansky–Pudlak syndrome, Menkes kinky hair syndrome …
[PDF][PDF] СлучАй СИНДРОмА СЕккЕлЯ у ДЕВОчкИ 3 лЕт С ВЫРАЖЕННОй зАДЕРЖкОй ФИзИчЕСкОГО И пСИхОмОтОРНОГО РАзВИтИЯ
СВ Долбня, РА Атанесян - Вестник - old.stgmu.ru
Впервые синдром описали Тревор Манн и Александр Рассел в 1959 году. Гельмут
Секкель в 1960 году опубликовал статью, в которой привёл результаты обследования …
Секкель в 1960 году опубликовал статью, в которой привёл результаты обследования …
СЛУЧАЙ СИНДРОМА СЕККЕЛЯ У ДЕВОЧКИ 3 ЛЕТ С ВЫРАЖЕННОЙ ЗАДЕРЖКОЙ ФИЗИЧЕСКОГО И ПСИХОМОТОРНОГО РАЗВИТИЯ
ЛВ Тонян, АА Чотчаева, ЭВ Миронова… - Вестник молодого …, 2017 - elibrary.ru
Рост и развитие ребёнка находятся под постоянным генетическим контролем, как в
антенатальном, так и в постнатальном периодах. Наиболее часто генные дефекты …
антенатальном, так и в постнатальном периодах. Наиболее часто генные дефекты …
Seckel syndrome with cutaneous pigmentary changes: two siblings and a review of the literature
FA Kılıç, SK Çakmak, T Tuncalı, Ö Koz, E Özhamamci… - 2015 - dspace.balikesir.edu.tr
Seckel syndrome (SCKL) is an extremely rare form of primordial dwarfism characterized by
growth delay, proportionate extreme short stature, a prominent beak-like nose, hypoplasia of …
growth delay, proportionate extreme short stature, a prominent beak-like nose, hypoplasia of …
[引用][C] Anesthesia in a child with Seckel syndrome.
G Demiralp, J Mayhew - Paediatric Anaesthesia, 2007 - europepmc.org
Anesthesia in a child with Seckel syndrome. - Abstract - Europe PMC Sign in | Create an account
https://orcid.org Europe PMC Menu About Tools Developers Help Contact us Helpdesk Feedback …
https://orcid.org Europe PMC Menu About Tools Developers Help Contact us Helpdesk Feedback …