Results 11 to 20 of about 1,837 (195)

Frontonasal dysplasia: clinical evaluation on audiological and brainstem electrophysiological profiles Displasia frontonasal: avaliação clínica e eletrofisiológica da audição [PDF]

Brazilian Journal of Otorhinolaryngology, 2011
Frontonasal dysplasia (FND) is a rare malformative complex affecting the frontal portion of the face, the eyes and the nose; it may occur singly or associated with other clinical signs.
Melissa Zattoni Antoneli, Célia Maria Giacheti, Kátia Flores Genaro, Neivo Luiz Zorzetto, Antonio Richieri-Costa   +4 more
doaj   +2 more sources

miR-302a/b/d-3p Differentially Expressed During Frontonasal Development Is Sensitive to Retinoic Acid Exposure [PDF]

Cells
Any failure in frontonasal development can lead to malformations at the middle facial region, such as frontonasal dysplasia, midfacial clefts, and hyper/hypotelorism.
Chihiro Iwaya, Akiko Suzuki, Goo Jun, Junichi Iwata   +3 more
doaj   +2 more sources

Genes Related to Frontonasal Malformations Are Regulated by miR-338-5p, miR-653-5p, and miR-374-5p in O9-1 Cells [PDF]

Journal of Developmental Biology
Frontonasal malformations are caused by a failure in the growth of the frontonasal prominence during development. Although genetic studies have identified genes that are crucial for frontonasal development, it remains largely unknown how these genes are ...
Chihiro Iwaya, Sunny Yu, Junichi Iwata
doaj   +2 more sources

Prenatal diagnosis of frontonasal dysplasia with anterior encephalocele. [PDF]

J Turk Ger Gynecol Assoc, 2013
Frontonasal dysplasia is a rare congenital anomaly affecting the eyes, nose and forehead, and occurs sporadically in most of the cases. A 24-year-old woman was referred to our unit at 27 weeks gestation due to the preliminary diagnosis of encephalocele.
Esmer AÇ, Kalelioğlu I, Kayserili H, Yüksel A, Has R.   +4 more
europepmc   +3 more sources

Frontonasal dysplasia (Median cleft face syndrome).

J Neurosci Rural Pract, 2012
ABSTRACTThis is a report of a rare case of frontonasal dysplasia (FND) in a full-term girl with birth weight of 2.750 kg. The baby had the classical features of FND. There were no other associated anomalies. There was no history of consanguinity and no family history of similar conditions.
Sharma S, Sharma V, Bothra M.
europepmc   +3 more sources

Frontonasal dysplasia Sequence : A case report [PDF]

Nigerian Journal of Paediatrics, 2014
Frontonasal dysplasia (FND) is a very rare congenital abnormality in which the mid face does not develop normally. It affects mainly the head and face. Cause is unknown but may be sporadic or familial.
Abubakar, H, Bello, M, Djossi, SK, Garandawa, H, Isa, A, Machoko, Y, Mustapha, Z, Ngamdu, YB, Tahir, C   +8 more
core   +5 more sources

ALX1‐related frontonasal dysplasia results from defective neural crest cell development and migration [PDF]

EMBO Molecular Medicine, 2022
Jonathan Pini, Janina Kueper, Yiyuan David Hu, Kenta Kawasaki, Pan Yeung, Casey Tsimbal, Baul Yoon, Nikkola Carmichael, Richard L Maas, Justin Cotney, Yevgenya Grinblat, Eric C Liao   +11 more
doaj   +2 more sources

Cyclopia: Facial deformity indicating severe holoprosencephaly with imaging findings of brain: A case report [PDF]

Radiology Case Reports
Holoprosencephaly results from incomplete separation of the cerebral hemispheres. Cyclopia is a facial manifestation of Holoprosencephaly, characterized by a midline single orbit and proboscis.
Shiva Aryal, MBBS, Bhumika Rimal, MBBS, Sharma Paudel, MD, Kundan Marasini, MD   +3 more
doaj   +2 more sources

Frontonasal dysplasia- a rare case report [PDF]

International Journal of Research in Medical Sciences, 2017
Frontonasal dysplasia (FND) is a rare malformative complex affecting the frontal portion of the face, the eyes and the nose; it may occur singly or associated with other clinical signs.
Dogra, Poojan, Kaushal, Vivek, Malhotra, Kapil, Sharma, Reena   +3 more
core   +4 more sources

Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. [PDF]

Am J Hum Genet, 2010
YILMAZ, Engin/0000-0001-8873-7645; Akarsu, Nurten/0000-0001-5432-0032; Ozdag, Hilal/0000-0001-7940-2499; Liehr, Thomas/0000-0003-1672-3054; Alanay, Yasemin/0000-0003-0683-9731; von Eggeling, Ferdinand/0000-0002-8062-6999We present an autosomal-recessive ...
Uz E, Alanay Y, Aktas D, Vargel I, Gucer S, Tuncbilek G, von Eggeling F, Yilmaz E, Deren O, Posorski N, Ozdag H, Liehr T, Balci S, Alikasifoglu M, Wollnik B, Akarsu NA.   +15 more
europepmc   +3 more sources