Results 31 to 40 of about 64,652,082 (128)

A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family. [PDF]

, 2012
Microcephaly–lymphedema–chorioretinal dysplasia (MLCRD) syndrome is a rare syndrome that was first described in 1992. Characteristic craniofacial features include severe microcephaly, upslanting palpebral fissures, prominent ears, a broad nose, and a ...
Ostergaard, P, Kantekin, E, Ozkinay, F, Özkınay F., Kantekin, Esin, Ozturk T., Jeffery, S, Fusun Atlihan, Jeffery S., Hazan F., Atlihan, Fusun, Esin Kantekin, ÖZTÜRK, ARİF TAYLAN, Ostergaard P., Steve Jeffery, Ozturk, T, Jeffery, Steve, Kantekin E., Hazan, F, Pia Ostergaard, Taylan Ozturk, Ozkinay, Ferda, Ostergaard, Pia, Filiz Hazan, Atlihan F., Atlihan, F, Ferda Ozkinay, Hazan, Filiz   +27 more
core   +1 more source

Table1_AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes.docx

, 2023
IntroductionMandibulo-Facial Dysostosis with Microcephaly (MFDM) is a rare disease with a broad spectrum of symptoms, characterized by zygomatic and mandibular hypoplasia, microcephaly, and ear abnormalities. Here, we aimed at describing the external ear
Tania Attie-Bitach, Marlène Rio, Roman H. Khonsari, Dan Milea (757546), François Djate Delbrah, Véronique Pingault, Pierre Corre (495723), Georges Carpentier (16842105), Wuttichart Kamolvisit (16481952), Lucile Boutaud, Stanislas Lyonnet, Maxime Douillet, Lucile Boutaud (15240113), Sandrine Touzet-Roumazeille (16842117), Sandrine Touzet-Roumazeille, Thantrira Porntaveetus (140198), Arnaud Picard (5465165), Nicolas Garcelon (5327618), Françoise Denoyelle, Georges Carpentier, Jeanne Amiel (288851), Françoise Denoyelle (12519338), Eva Galliani (4037894), Geneviève Baujat, Arnaud Picard, Geneviève Baujat (747803), Véronique Pingault (16842114), Thantrira Porntaveetus, Thomas Bongibault (16842102), Marlène Rio (3543572), Tania Attie-Bitach (313820), Roman H. Khonsari (10876074), Sandrine Marlin (313821), Jeanne Amiel, Dan Milea, Stanislas Lyonnet (186137), Pierre Corre, Sandrine Marlin, Thomas Bongibault, François Djate Delbrah (16842108), Eva Galliani, Quentin Hennocq, Wuttichart Kamolvisit, Maxime Douillet (16842111), Marjolaine Willems (8882330), Quentin Hennocq (16842099), Marjolaine Willems, Nicolas Garcelon   +47 more
core   +1 more source

Recurrent Constellations of Embryonic Malformations (RCEM): Teratogenicity Linked to Transient Hypoxia and Hormone Pregnancy Tests Agrees With RCEM and Suggest a Reactive Oxygen Species Pathogenesis

Birth Defects Research, Volume 118, Issue 3, March 2026.
ABSTRACT Background No consistent genetic etiology has been found for a group of six different conditions in humans with multiple malformations called “recurrent constellations of embryonic malformations” (RCEM). Recent studies indicate hypoxia/reoxygenation and generation Reactive Oxygen Species (ROS) as an underlying mechanism for RCEM with the ...
Aaron P. Adam, Helen E. Ritchie, Margaret P. Adam, Bengt R. Danielsson   +3 more
wiley   +1 more source

Morphological characterization of zygomatic arch, maxilla and mandible in subjects with dysostosis mandibulofacial

, 2016
Introdução: as disostoses mandibulofaciais representam um grupo de condições geneticamente heterogêneas, caracterizado principalmente por hipoplasia de arco zigomático, hipoplasia mandibular e anomalias de orelhas.
Moura, Priscila Padilha
core   +1 more source

Image1_AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes.jpeg

, 2023
IntroductionMandibulo-Facial Dysostosis with Microcephaly (MFDM) is a rare disease with a broad spectrum of symptoms, characterized by zygomatic and mandibular hypoplasia, microcephaly, and ear abnormalities. Here, we aimed at describing the external ear
Geneviève Baujat (747803), Véronique Pingault (16842114), Thomas Bongibault (16842102), Marlène Rio (3543572), Tania Attie-Bitach (313820), Dan Milea (757546), Roman H. Khonsari (10876074), Pierre Corre (495723), Sandrine Marlin (313821), Georges Carpentier (16842105), Wuttichart Kamolvisit (16481952), Stanislas Lyonnet (186137), Lucile Boutaud (15240113), Sandrine Touzet-Roumazeille (16842117), François Djate Delbrah (16842108), Thantrira Porntaveetus (140198), Arnaud Picard (5465165), Nicolas Garcelon (5327618), Maxime Douillet (16842111), Jeanne Amiel (288851), Marjolaine Willems (8882330), Françoise Denoyelle (12519338), Eva Galliani (4037894), Quentin Hennocq (16842099)   +23 more
core   +1 more source

Genetic Landscape of Robin Sequence: A Systematic Review

Clinical Genetics, Volume 109, Issue 2, Page 218-232, February 2026.
This systematic review summarizes the genetic landscape of Robin sequence (RS), highlighting key differences between isolated and non‐isolated forms and emphasizing the role of up‐to‐date genetic testing for diagnosis and clinical management. ABSTRACT Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper ...
Shirley van de Velde, Aebele B. Mink van der Molen, Augusta M. A. Lachmeijer, Daan de Leijer, Jeroen J. Smits, Maarten P. G. Massink, Sarah L. Versnel, Marie‐José H. van den Boogaard, Emma C. Paes   +8 more
wiley   +1 more source

Image2_AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes.jpeg

, 2023
IntroductionMandibulo-Facial Dysostosis with Microcephaly (MFDM) is a rare disease with a broad spectrum of symptoms, characterized by zygomatic and mandibular hypoplasia, microcephaly, and ear abnormalities. Here, we aimed at describing the external ear
Geneviève Baujat (747803), Véronique Pingault (16842114), Thomas Bongibault (16842102), Marlène Rio (3543572), Tania Attie-Bitach (313820), Dan Milea (757546), Roman H. Khonsari (10876074), Pierre Corre (495723), Sandrine Marlin (313821), Georges Carpentier (16842105), Wuttichart Kamolvisit (16481952), Stanislas Lyonnet (186137), Lucile Boutaud (15240113), Sandrine Touzet-Roumazeille (16842117), François Djate Delbrah (16842108), Thantrira Porntaveetus (140198), Arnaud Picard (5465165), Nicolas Garcelon (5327618), Maxime Douillet (16842111), Jeanne Amiel (288851), Marjolaine Willems (8882330), Françoise Denoyelle (12519338), Eva Galliani (4037894), Quentin Hennocq (16842099)   +23 more
core   +1 more source

A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type

, 2022
Objective: Genetic variants in EFTUD2 were proven to influence variable phenotypic expressivity in mandibulofacial dysostosis Guion-Almeida type (MFDGA) or mandibulofacial dysostosis with microcephaly (MFDM).
Istifiani, Lola Ayu, Shodry, Syifaus, Ayudianti, Prida, Soraya, Gita Vita, Herawangsa, Sarah, Tse, William Ka Fai, Pamungkas, Syafrizal Aji, Ulhaq, Zulvikar Syambani, Arisanti, Ditya, Kusuma, Muhammad A’raaf Sirojan, Idaiani, Sri, Nurputra, Dian Kesumapramudya, Dini, Badariyatud, Astari, Lina Fitria, Hasan, Yuliono Trika Nur   +14 more
core  

First and second branchial arch involvement in mandibulofacial dysostosis Guion-Almeida type

, 2023
Mandibulofacial dysostosis Guion-Almeida Type (MFDGA; OMIM#610536) is a rare autosomal dominant genetic disorder caused by heterozygous pathogenic variants in the EFTUD2 gene.
Quinzi, V, Capolino, R, Splendiani, A, Brancati, F, Marzo, G, De Luca, C, Giovannetti, F, Cocciadiferro, D   +7 more
core   +1 more source

CHROMOSOMAL ANALYSIS OF MENTALLY RETARDED CHILDREN WITH MICROCEPHALY [PDF]

, 2011
Background: Mental retardation is a common condition with the incidence of 1- 3% of the entire population; about 25% - 50% of them are genetic causes. Chromosomal causes account for up to 28%.
Afadiyanti, Alfi, Rusdi, Wiyosa Waluyan, Putra, Farmaditya Eka   +2 more
core   +1 more source