Results 11 to 20 of about 390,574 (294)

High-Resolution Epigenomic Atlas of Human Embryonic Craniofacial Development

Cell Reports, 2018
Summary: Defects in patterning during human embryonic development frequently result in craniofacial abnormalities. The gene regulatory programs that build the craniofacial complex are likely controlled by information located between genes and within ...
Andrea Wilderman, Jennifer VanOudenhove, Jeffrey Kron, James P. Noonan, Justin Cotney   +4 more
doaj   +2 more sources

Characteristic craniofacial defects associated with a novel USP9X truncation mutation [PDF]

Human Genome Variation
Germline loss-of-function mutations in USP9X have been reported to cause a wide spectrum of congenital anomalies. Here, we report a Japanese girl with a novel heterozygous nonsense mutation in USP9X who exhibited intellectual disability with ...
Namiki Nagata, Hiroshi Kurosaka, Kotaro Higashi, Masaya Yamaguchi, Sayuri Yamamoto, Toshihiro Inubushi, Miho Nagata, Yasuki Ishihara, Ayumi Yonei, Yohei Miyashita, Yoshihiro Asano, Norio Sakai, Yasushi Sakata, Shigetada Kawabata, Takashi Yamashiro   +14 more
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p75 neurotrophin receptor regulates craniofacial growth and morphology in postnatal development [PDF]

Frontiers in Cell and Developmental Biology
Craniofacial abnormalities are among the most prevalent congenital defects, significantly affecting appearance, function, and quality of life. While the role of genetic mutations in craniofacial malformations is recognized, the underlying molecular ...
Byron Zhao, Jinsook Suh, Yan Zhang, Eric Yin, Chiho Kadota-Watanabe, Chiho Kadota-Watanabe, In Won Chang, Jun Yaung, Isabelle Lao-Ngo, Nathan M. Young, Reuben H. Kim, Ophir D. Klein, Ophir D. Klein, Christine Hong   +13 more
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Crouzon Syndrome with Ocular Abnormalities: A Case Report [PDF]

Indian Journal of Neonatal Medicine and Research, 2016
Crouzon syndrome is a rare genetic disorder characterized by premature closure of cranial sutures, exophthalmos, beak-like nose and mid facial hypoplasia. It was initially described as hereditary syndrome of craniofacial synostosis.
Shakeen Singh, Anubha Bhatti, Mabel Bishnoi   +2 more
doaj   +1 more source

Craniofacial Deformities

, 2022
Craniofacial deformities (CFA) includes deformities in the head and facial bones. Such abnormalities are developed since birth .
Dr. Shadab Mohammad
core   +1 more source

Surgical treatment of patients with caudal regression syndrome

Хирургия позвоночника, 2016
The paper presents clinical examples of surgical treatment of female patients aged 3 and 13 years having congenital mal- formations of the lumbosacral spine, sacral aplasia, and tethered spinal cord. The patients underwent surgical treatment, with due
Sergey V. Kolesov, Yury V. Kushel, Olga S. Sivacheva   +2 more
doaj   +1 more source

Maxillofacial 3D Imaging in Cleidocranial Dysplasia: A Case Report and Literature Review [PDF]

Journal of Kerman University of Medical Sciences, 2022
Cleidocranial dysplasia (CCD) is an inherited autosomal dominant disorder affecting the skeletal and craniofacial structures, exhibiting distinct maxillofacial abnormalities.
Mohamed Faizal Asan, Supriya Bhat, Ananya Madiyal, Renita Lorina Castelino, G Subhas Babu   +4 more
doaj   +1 more source

Assessment of the quality of life of orthodontic and surgical patients. Analysis of the factors that motivate the initiation of treatment within the masticatory system

Journal of Education, Health and Sport, 2021
IntroductionAccording to Angle's classification, a correct bite should have, inter alia, the following regularities: the median line of the face should coincide with the line between the central incisors of the upper and lower arches, the lower incisors ...
Justyna Oliwia Szpyt, Magdalena Gębska
doaj   +1 more source

Anesthetic management of a patient with Weaver syndrome undergoing emergency evacuation of extra-dural hematoma: A case report and review of the literature

Saudi Journal of Anaesthesia, 2016
Weaver syndrome is a rare disorder of unknown etiology characterized by skeletal overgrowth, distinctive craniofacial and digital abnormalities and advanced bone age.
R S Khokhar, MSM Hajnour, M Aqil, A H Al-Saeed, S Qureshi   +4 more
doaj   +1 more source

PRENATAL DIAGNOSIS OF ROBERT/SC SYNDROME IN A DIABETIC MOTHER WITH A HISTORY OF MEBENDAZOLE AND GLIBENCLAMIDE INTAKE [PDF]

Acta Medica Iranica, 2003
The Robert/SC (pseudothalidomide) syndrome is a rare autosomal recessive disorder, associated with phocomelia and craniofacial abnormalities. An anomalous fetus with lower limb phocomelia and micromelia, lumbar myeloschisis, upper limb and ribs defects ...
M. Pourissa, S. Refahi N. Garaaghagi
doaj   +2 more sources