Results 81 to 90 of about 4,834 (221)

Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders [PDF]

, 2014
Desmosterolosis is an autosomal recessive disorder of cholesterol biosynthesis caused by biallelic mutations of DHCR24 (homozygous or compound heterozygous), which encodes 3-β-hydroxysterol Δ-24-reductase. We report two sisters homozygous for the 571G>
Benjamin Millar, Cornelius F Boerkoel, Cristina Dias, Kunho Choi, Lisa E Kratz, Marco Marra, Michelle Demos, Rosemarie Rupps   +7 more
core   +2 more sources

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard   +2 more
wiley   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, Volume 66, Issue S2, Page 121-143, December 2025.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

Freeman-Sheldon Syndrome: A Rare Case Report with Dental Perspective

Prague Medical Report
Freeman-Sheldon syndrome is a rare form of multiple congenital contracture syndromes (arthrogryposes) and is the most severe form of distal arthrogryposis. The main skeletal malformations include camptodactyly with ulnar deviation and talipes equinovarus
Sahil Mustafa Kidwai, Suman Sen, Nikil Kumar Jain, Sudhir Ramesh Maheshkar   +3 more
doaj   +1 more source

Novel Nonsense Mutation in SMARCD2 Gene Results in Dysplasia of All Myeloid Cell Lines

eJHaem, Volume 6, Issue 6, December 2025.
ABSTRACT Introduction Specific granule deficiency type II (SGD2) is a rare heterogeneous congenital disease characterized by early‐onset life‐threatening infections. SGD2 is caused by autosomal recessive mutations in the SMARCD2 gene. Methods Prenatal screening in our patient revealed a novel homozygous nonsense mutation in SMARCD2 (c.208C>T, p.Gln70*).
Michelle A. E. Brouwer, Arie Arensman, H. Rob Taal, Emilie P. Buddingh, Su Ming Sun, Anthon Hulsmann, Lenneke Waals‐Prinzen   +6 more
wiley   +1 more source

Congenital Talipes Equinovarus

The Professional Medical Journal, 2012
Objectives: To determine the functional outcome of one stage posteromedial release in congenital clubfoot in terms offunctional and radiological assessment. Methodology: Forty five patients having clubfoot deformity were included in the study. Fifteen patientshad bilateral deformities. The outcome was evaluated by functionally assessing the foot in the
Muhammad IMRAN KHAN, MUHAMMAD AYAZ KHAN, Muhammad SALMAN, Raza Hassan   +3 more
openaire   +3 more sources

Larsen syndrome

Bangabandhu Sheikh Mujib Medical University Journal, 2016
Larsen syndrome is a rare inherited disorder characterized by congenital dislocation of multiple joints along with other anomalies of heart, face, hands and bones. Larsen syndrome was first described in 1950 by Larsen, Schottstaedt and Bost.
Mohammed Mahbubul Islam, Mujammel Haque, Zahoor Hussain Daraz, Sufia Khatun Sumi, Mohammad Imnul Islam, Shahana A. Rahman   +5 more
doaj   +1 more source

Turco’s Postero-Medial Release for Congenital Talipes Equino-Varus

Gomal Journal of Medical Sciences, 2004
Background: Talipes equino-varus is the most common congenital orthopaedic anomaly. There are various methods for its management. This study was conducted to determine the efficacy of Turco’s one stage postero-medial release in children with congenital ...
Shakir Hussain, Mohammad Inam, Mohammad Arif, Abdul Sattar, Mohammad Saeed   +4 more
doaj  

The results of posteromedial release (Turco method) for the treatment of congenital Clubfoot in children between 6 months to five years old [PDF]

, 2004
In this prospective study 37 children (65 feet) between 6 months and 5 years old have been chosen. In 75% of cases the disease was bilateral, 23 patients were male and 14 female. There was not family history of congenital clubfoot in any case.

core  

Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation [PDF]

, 2016
Distal arthrogryposis (DA) is a clinically and genetically heterogeneous disorder with multiple joint contractures. We describe a female DA patient with hand and foot deformities, and right-sided torticollis. Using exome sequencing, we identified a novel
Janković, Sunčana, Matsumoto, Naomichi, Miyake, Noriko, Ogata, Kazuhiro, Petrović, Davor, Shiina, Masaaki, Čulić, Vida, Đapić, Tomislav, Šimunović, Marko   +8 more
core   +1 more source