Results 61 to 70 of about 97,105 (315)

Remodeling of extracranial veins and venous-arterial imbalance in extrinsic stenosis and hypoplasia of the internal jugular veins

Сибирский научный медицинский журнал
The aim of the study was to compare hemodynamic parameters, the sequence of remodeling of the jugular and extrajugular outflow tracts of cerebral venous circulation in extrinsic stenosis and hypoplasia of the internal jugular vein (IJV).
S. E. Semenov, D. V. Bondarchuk, I. N. Malkov, M. G. Shatokhina   +3 more
doaj   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Prevalence of Morphological Variations of Posterior Communicating Artery and its Association with Age, Sex, and Laterality using Magnetic Resonance Angiography: A Cross-sectional Study [PDF]

Journal of Clinical and Diagnostic Research
Introduction: The Posterior Communicating Artery (PCoA) is a vital component of the circle of Willis, providing collateral circulation between the anterior and posterior cerebral circulations.
Ashish Kumar, Priyanka Sharma, Neha Vijay, Manoj Kulkarni, Hetal Vaishnani, Ashutosh Patel, Parth chandubhaisavaliya, Kinjal Jethva   +7 more
doaj   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Pituitary Stalk Interruption Syndrome: A Case Series Highlighting the Diagnostic Utility of MRI [PDF]

International Journal of Anatomy Radiology and Surgery
Pituitary Stalk Interruption Syndrome (PSIS) is a rare congenital anomaly characterised by an interrupted or thin pituitary stalk, hypoplasia of the anterior pituitary and an absent or Ectopic Posterior Pituitary (EPP).
Jyoti Choudhary, Deepshikha Arora, Avinash Dhok, Chetana Ratnaparkhi, Ashwini Umredkar   +4 more
doaj   +1 more source

Cone Beam CT Evaluation of Bilateral Maxillary Sinus Hypoplasia with Unilateral Mandibular Hypertrophy

Journal of Orofacial Sciences, 2020
Maxillary sinus hypoplasia (MSH) is a rare condition characterized by underdevelopment or decrease in the volume of the maxillary sinus. It is thought that MSH may be embryological in origin but acquired etiologies have also been discussed in the ...
Mohammed Bindakhil, Mel Mupparapu
doaj   +1 more source

Clinical case seminar - Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita

, 2002
Mutations in the orphan nuclear receptor DAX-1 cause X-linked adrenal hypoplasia congenita. Affected boys usually present with primary adrenal failure in early infancy or childhood.
Beck-Peccoz, P, Achermann, JC, Romoli, R, Spada, A, Mantovani, G, Persani, L, Jameson, JL, Ozisik, G, Borretta, G   +8 more
core  

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Optic nerve hypoplasia in the fetal alcohol syndrome:a mouse model

, 1995
Optic nerve hypoplasia is commonly observed in children affected by the fetal alcohol syndrome, and is believed to contribute to their poor visual acuity.
Dhillon, Baljean, Parson, S H, Findlater, G S, Kaufman, M H   +3 more
core  

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source