Results 51 to 60 of about 1,837 (195)

Clinical Classification of Mosaicism

JEADV Clinical Practice, Volume 4, Issue 3, Page 646-651, August 2025.
Mosaic skin abnormalities can present under a segmental pattern or as ¡non‐segmental skin lesions. Non‐segmental mosaicism (Figure 1, a‐c), which is most common, includes individual point lesions, tumors, hamartomatous lesions, or malformations. Segmental mosaicism (Figure 2, a‐f)is less common and presents as asymmetric cutaneous lesions in one or ...
Andrea Diociaiuti, Teresa Oranges, Eulalia Baselga, May El Hachem   +3 more
wiley   +1 more source

Using bioabsorbable fixation systems in the treatment of pediatric skull deformities leads to good outcomes and low morbidity [PDF]

, 2018
Background: Bioabsorbable fixation systems have been widely employed in pediatric patients for cranial reconstruction, obviating the complications of hardware migration and imaging artifact occurring with metallic implants.
Arrigo, Robert, Edwards, Michael, Guzman, Raphael, Hayden Gephart, Melanie, Lorenz, H., Schendel, Stephen, Woodard, Joslyn   +6 more
core  

Stroke in children with posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities (PHACE) syndrome: a systematic review of the literature. [PDF]

, 2012
Background and purposePHACE is an acronym for posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Several case reports of arterial ischemic stroke (AIS) in individuals
Burrows, Patricia, Cordisco, Maria, Drolet, Beth A, Frieden, Ilona J, Fullerton, Heather J, Garzon, Maria, Hess, Christopher, Holland, Kristen E, Johnson, Craig, Keith, Phillip, Kelly, Teresa, Maheshwari, Mohit, Metry, Denise, Pope, Elena, Siegel, Dawn H, Tefft, Kimberly A   +15 more
core   +1 more source

Research Progress on Embryonic Development, Genetic Regulation and Clinical Management of Congenital Middle Ear Malformations

Flavour and Fragrance Journal, Volume 40, Issue 3, Page 393-401, May 2025.
This article systematically reviews the embryonic development process and gene regulatory mechanisms of the middle ear, with a particular focus on the role of the Tbx1 gene, which is closely associated with middle ear development, in middle ear malformations, especially those involving the ossicular chain.
Xiaochen Gao, Chengzhilin Li, Fanyu Yuan, Xue Cao, Chengcheng Liu, Wenwen Qi, Fengyang Xie, Ming Xia   +7 more
wiley   +1 more source

Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay

Frontiers in Pediatrics, 2020
Background: Craniofrontonasal syndrome is a rare, X-linked disorder in which heterozygous females ironically reported the majority of patients and is caused by in the EFNB1 gene located at chromosome Xq13.1.
Ji Yoon Han, Hyun Jeong Kim, Ja Hyun Jang, In Goo Lee, Joonhong Park, Joonhong Park   +5 more
doaj   +1 more source

Virchow-Robin spaces : an anatomic variant or a pathologic sign? [PDF]

, 2009
Virchow-Robin spaces surround blood vessels. Their walls are formed by prolongations of the pia mater and they have no communication with the subarachnoid space. VRS are often seen as well-delineated foci of cerebrospinal fluid signal on MR images.

core  

Compensation for vertical dysplasia and its clinical application [PDF]

, 2009
The Purpose of this study was to quantitatively evaluate skeletal and dental compensation in Patients with vertical skeletal dysplasias and to determine which dentoalveolar parameters compensate for vertical jaw discrepancies. Cephalometric analyses were
Anwar, Nabila, Fida, Mubassar
core   +2 more sources

ALX-Related Frontonasal Dysplasias: Clinical Characteristics and Surgical Management

The Cleft Palate Craniofacial Journal, 2021
Aim: The term frontonasal dysplasia (FND) represents a spectrum of anomalies and its genetics have not been well defined. Recently, the critical role of the aristaless-like homeobox ( ALX) gene family on the craniofacial development has been discovered.
Ibrahim Vargel, Halil Ibrahim Canter, Arda Kucukguven, Asim Aydin, Figen Ozgur   +4 more
openaire   +5 more sources

Post‐COVID‐19 Exacerbation of a Stable Fibrous Dysplasia: A Case Report

Clinical Case Reports, Volume 13, Issue 4, April 2025.
ABSTRACT Fibrous dysplasia (FD) is a rare, benign fibro‐osseous lesion characterized by replacement of normal bone with extensive fibrous stroma due to abnormalities in osteoblast differentiation. After puberty and during adulthood, FD lesions usually become quiescent. However, some cases show signs of regrowth and reactivation.
Mohammed Taib Fatih, Mohammed Abdalla Mahmood, Mohammed Khalid Mahmood, Amanj Ismael Tahir, Handren Ameer Kurda, Mohammed Aso Abdulghafor, Balen Hamid Qadir, Zana Fuad Noori   +7 more
wiley   +1 more source

Clinical Features and Management of a Median Cleft Lip

Archives of Plastic Surgery, 2016
Background Median cleft lip is a rare anomaly consisting of a midline vertical cleft through the upper lip. It can also involve the premaxillary bone, the nasal septum, and the central nervous system.
Kyung S. Koh, Do Yeon Kim, Tae Suk Oh
doaj   +1 more source