Results 51 to 60 of about 67,286 (306)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart +6 more
wiley +1 more source
A case of Plus minus lid syndrome with Hypesthesia- Hemiataxia
Asian Journal of Medical Sciences, 2020 We present the case of a patient with paramedian mesencephalic and ipsilateral thalamic infarction with an unusual clinical presentation, where the diagnosis and accurate anatomical localization were imperative for a unique clinicoradiological ...
Sinjan Ghosh +6 more
doaj +1 more source
Cleavage of the apoptosis inhibitor DIAP1 by the apical caspase DRONC in both normal and apoptotic drosophila cells [PDF]
, 2005 In Drosophila S2 cells, the apical caspase DRONC undergoes a low level of spontaneous autoprocessing. Unintended apoptosis is prevented by the inhibitor of apoptosis DIAP1, which targets the processed form of DRONC for degradation through its E3 ...
Clem, Rollie J. +2 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods +16 more
wiley +1 more source
Tarsal switch using an anterior approach to correct severe ptosis
Archives of Plastic Surgery, 2018 Background To present the outcomes of the tarsal switch procedure using an anterior approach to correct severe ptosis with poor levator muscle function (
Roberta Lilian Fernandes de Sousa Meneghim +5 more
doaj +1 more source
Marcus Gunn Jaw Winking Phenomenon - A case of the widening eye [PDF]
, 2009 Marcus Gunn jaw winking phenomenon is a congenital synkinetic movement due to synkinesis between the upper eyelid and the pterygoids and it accounts for 8% of patients with congenital ptosis. In rare instances, ptosis may be absent.
Bhat, KG, Karanth, A
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy +15 more
wiley +1 more source
Revista Cubana de Oftalmología, 2002 Se estudiaron 93 pacientes que acudieron a consulta en el año 2001 y se les realizó examen oftalmológico completo y específico de la ptosis. El 40,86 % se encontraba entre los 15 años o menos.
Marta Herrera Soto +3 more
doaj
Managing Marcus Gunn Ptosis - Our Approach
Delhi Journal of Ophthalmology, 2017 Marcus Gunn ptosis is a congenital synkinetic ptosis due to an abnormal innervation of the levator muscle. Aim of the surgical treatment is to eliminate jaw winking phenomenon and correct ptosis. Moderate to severe jaw winking ptosis is best corrected by
A. K. Grover, Shaloo Bageja
doaj +1 more source
Oculoplasty Evaluation for Postgraduates
Delhi Journal of Ophthalmology, 2023 Clinical examination and evaluation of Oculoplastics patients as a postgraduate can be daunting, either due to a paucity of patients with oculoplastic conditions or lack of exposure to the sub-specialty.
Rwituja Thomas, Aman Vaishya
doaj +1 more source