Results 41 to 50 of about 32,206 (257)

Anesthetic Management of Children with KBG Syndrome and Novel Use of Sacral Erector Spinae Block: A Case Report

Medical Journal of Dr. D.Y. Patil Vidyapeeth
KBG syndrome is a rare genetic disorder manifested by craniofacial dysmorphism, skeletal abnormalities, short stature, and developmental delay. The anesthetic management may be challenging due to associated craniofacial and other skeletal abnormalities ...
Sana Y. Hussain, Nishant Patel, Anju Gupta, Nupur Pandya   +3 more
doaj   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Postnatal Craniofacial Skeletal Development of Female C57BL/6NCrl Mice

Frontiers in Physiology, 2017
The craniofacial skeleton is a complex and unique structure. The perturbation of its development can lead to craniofacial dysmorphology and associated morbidities.
Xiaoxi Wei, Xiaoxi Wei, Neil Thomas, Nan E. Hatch, Min Hu, Fei Liu   +5 more
doaj   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Fibroblast growth factor 8: Multifaceted role in development and developmental disorder

Genes and Diseases
Fibroblast growth factor 8 (FGF8), a secreted signaling molecule, involves in regulating cell survival, proliferation, migration, and differentiation. It exhibits a highly dynamic gene expression pattern throughout embryonic development, participates in ...
Huamin Yin, Lian Duan, Zhendong Wang, Li Liu, Jingling Shen   +4 more
doaj   +1 more source

Deletion of Gli3 in mice causes abnormal frontal bone morphology and premature synostosis of the interfrontal suture

Frontiers in Physiology, 2012
Greig cephalopolysyndactyly syndrome (GCPS) is an autosomal dominant disorder with polydactyly and syndactyly of the limbs and a broad spectrum of craniofacial abnormalities.
Lotta eVeistinen, Maarit eTakatalo, Dörthe A. Kesper, Andrea eVortkamp, David P Rice, David P Rice   +5 more
doaj   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

FREQUENCY OF SINO-NASAL ABNORMALITIES AND ASSOCIATED SOCIODEMOGRAPHIC FACTORS AMONG THE PATIENTS PRESENTING WITH CRANIOFACIAL PAINS AT ENT DEPARTMENT

Pakistan Armed Forces Medical Journal, 2019
Objective: To determine the frequency of sino-nasal abnormalities and associated socio-demographic factors among the patients presenting with craniofacial painat ENT department of a tertiary care hospital of Pakistan Study Design: Cross-sectional ...
Humza Mumtaz, Usama Bin Zubair
doaj   +4 more sources

Role of soft tissue and bone interactions in the developmental integration and modularity of the skull in neural crest‐specific gap junction alpha‐1 knockout mice

The Anatomical Record, EarlyView.
Abstract The vertebrate skull is composed of bones derived from neural crest cells and mesoderm. The evolutionary capacity of the skull has been linked, in part, to the emergence of neural crest cells; however, this increased capacity for evolutionary change requires that variation within neural crest‐ and mesoderm‐derived bones remains partly ...
Alyssa C. Moore, Madeline Tourigny, Diana Quinonez, Kevin Barr, Matthew W. Grol, Katherine E. Willmore   +5 more
wiley   +1 more source

Characteristic craniofacial defects associated with a novel USP9X truncation mutation

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
doaj   +1 more source