Results 81 to 90 of about 9,046 (221)

A case of spondylocostal dysostosis with a fra (5) (q32)

The Turkish Journal of Pediatrics, 1997
Spondylocostal dysostosis is a rare hereditary syndrome with various costal and vertebral deformities. No chromosomal abnormalities in connection with this syndrome were previously reported in literature.
M Satar, A K Temoçin, A Atici, O Demirhan   +3 more
doaj  

Bir Olgu Nedeniyle Cleıdocranıal Dysostosıs

Turkish Journal of Orthodontics, 1997
Cleidocranial dysostosis is an autosomal dominant syndrome affecting the calvaria and the bones, clavicula and the dentition. Enamel hypoplasia, cleft palate, persistence of primary teeth, missing or impacted teeth are the significant intraoral findings.
F. Seymen, M. Özgen, H. Kayserili
doaj   +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

The acrocallosal syndrome: A case report and literature survey [PDF]

, 2009
Acrocallosal syndrome (ACS) is a rare, genetically transmitted disorder characterized by facial deformities. These include a large forehead, large anterior fontanelle, broad nasal bridge with increased intercanthal distance, partial or complete agenesis ...
Davies, Lindsey, Gonzales, Cesar, Hodgson, Brian   +2 more
core   +1 more source

Severe Diaphragmatic Eventration Presenting With Recurrent Syncope: A Rare Case Report

Clinical Case Reports, Volume 13, Issue 11, November 2025.
Contrast‐enhanced coronal chest CT scan images in mediastinal window showing significantly elevated intact smooth‐contoured left hemidiaphragm (yellow arrows in A) with upward displacement of the stomach (red arrows in A, B and C), mesenteric fat (green arrow in B) and spleen (blue arrow in C) into the left hemithorax.
Prosper Adjei, Edward Ebo Ocran, Kingsley Owusu Manu, Jo‐Ann Jackson, Pius Kyere, Lawrence Yourbebore Sobsah, Samuel Kyeremeh Adjei, Tampo Gyabong   +7 more
wiley   +1 more source

Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2

Molecular Genetics & Genomic Medicine
Background Mandibulofacial dysostosis with microcephaly (MFDM, OMIM# 610536) is a rare monogenic disease that is caused by a mutation in the elongation factor Tu GTP binding domain containing 2 gene (EFTUD2, OMIM* 603892).
Ying Chen, Run Yang, Xin Chen, Naier Lin, Chenlong Li, Yaoyao Fu, Aijuan He, Yimin Wang, Tianyu Zhang, Jing Ma   +9 more
doaj   +1 more source

Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation

Annals of Indian Academy of Neurology, 2015
Fucosidosis is a rare lysosomal storage disease with clinical presentation of developmental retardation, coarse facial features, hepatosplenomegaly, dysostosis multiplex, and angiokeratomas.
Tanyel Zubarioglu, Ertugrul Kiykim, Cigdem Aktuglu Zeybek, Mehmet Serif Cansever, Gulcin Benbir, Ahmet Aydin, Cengiz Yalcinkaya   +6 more
doaj   +1 more source

Mandibulofacial dysostosis : a case report [PDF]

, 1973
A case of the mandibulofacial dysostosia at the age of 5 months is reported. All the main features described in the syndrome are present in this case. Though the Mandibulo-Facial Dysostosis is a relatively rare congenital abnormality this case deserved ...
Damato, Francis Joseph, Griscti-Soler, A.   +1 more
core  

Congenital generalized hypertrichosis: The skin as a clue to complex malformation syndromes [PDF]

, 2015
Hypertrichosis is defined as an excessive growth in body hair beyond the normal variation compared with individuals of the same age, race and sex and affecting areas not predominantly androgen-dependent. The term hirsutism is usually referred to patients,
CORSELLO, Giovanni, Falsaperla, R., Neri, G., Pavone, P., Praticò, A., Ruggieri, M., Zollino, M.   +6 more
core   +2 more sources

Study of the bone pathology in early mucolipidosis II (I-cell disease). [PDF]

, 1989
Histological examination of the bones obtained on autopsy of a 5-month-old child with mucolipidosis II (I-cell disease) revealed inhibition of the growth plate calcification with defective vascular invasion and signs of hyperparathyroidism.
Beluffi G, Bianchi E, Castello A, Coci A, Marchi A., Pazzaglia U   +5 more
core   +1 more source