Results 71 to 80 of about 117,613 (171)

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

A Case of Neonatal Marfan Syndrome: A Management Conundrum and the Role of a Multidisciplinary Team

Case Reports in Pediatrics, Volume 2017, Issue 1, 2017., 2017
Neonatal Marfan syndrome (nMFS) is a rare condition with a poor prognosis. It is genotypically and phenotypically distinct from the typical Marfan syndrome and carries a poorer prognosis. This case report describes the progression of a 14‐month‐old girl diagnosed with nMFS at 5 months of age.
Elliott J. Carande, Samuel J. Bilton, Satish Adwani, Bibhuti Das   +3 more
wiley   +1 more source

Validating the Accuracy of the ‘Measurement of Baby's Head Shape™’ Mobile Application

IEEJ Transactions on Electrical and Electronic Engineering, Volume 20, Issue 11, Page 1705-1716, November 2025.
In Japan, positional cranial deformities (PCD) have received limited attention. At present, objective evaluation of the severity of cranial deformity requires specialized equipment and software that are not suitable for screening. The ‘Measurement of a baby's head shape™’ (Japan Medical Company) application quantifies plagiocephaly and brachycephaly ...
Atsuko Nakahari, Shigeharu Hosono, Akira Gomi, Isao Kusakawa, Ichiro Tanaka   +4 more
wiley   +1 more source

Craniosynostosis in Siblings, an Extremely Rare Occurrence: A Case Report

Clinical Case Reports, Volume 12, Issue 11, November 2024.
ABSTRACT Craniosynostosis (CS) is the premature fusion of skull sutures, with all sutures except the metopic suture typically fusing in adulthood. Premature fusion constrains brain growth, leading to abnormal skull shape and potential neurocognitive or neurological issues, along with syndromic features in some cases. While CS is rare, its occurrence in
Tirth Bhavsar, Sachin Mahendrakumar Chaudhary, Sumesh Singh   +2 more
wiley   +1 more source

Assessment of Facial Asymmetry in Slovak Patients with Positional Deformity

Children
Objectives: Positional deformity (PD), also known as deformational plagiocephaly or non-synostosis, is a primary cause of abnormal head shape and asymmetry in infants.
Lenka Matejáková, František Horn, Petra Slaná, Andrej Plž, Maryam Zarinshad, Eva Štefánková   +5 more
doaj   +1 more source

Prevalence of positional skull deformities in 530 premature infants with a corrected age of up to 6 months: a multicenter study

BMC Pediatrics, 2019
Background Positional deformities (PD) are common during early infancy. Severe cases may result in facial abnormalities and be associated with delayed neurological development in infants.
Wang Yang, Jianping Chen, Wenzhi Shen, Chengju Wang, Zhifeng Wu, Qing Chang, Wenzao Li, Kuilin Lv, Qiuming Pan, Hongxia Li, Duyao Ha, Yuping Zhang   +11 more
doaj   +1 more source

ISUOG Practice Guidelines: performance of third‐trimester obstetric ultrasound scan

Ultrasound in Obstetrics &Gynecology, Volume 63, Issue 1, Page 131-147, January 2024.
A. Khalil, A. Sotiriadis, F. D'Antonio, F. Da Silva Costa, A. Odibo, F. Prefumo, A. T. Papageorghiou, L. J. Salomon   +7 more
wiley   +1 more source

NARRATIVE REVIEW ON POSITIONAL PLAGIOCEPHALY

JOURNAL OF ORTHOPEDICS, 2023
Plagiocephaly, characterized by asymmetrical skull distortion, affects infants and can manifest in various severities, impacting both aesthetics and cranial function. Historically linked to cultural practices like cradleboarding, modern medicine now focuses on its pathological aspects.
openaire   +1 more source

Efficacy of Cranial Orthosis for Plagiocephaly Based on 2D and 3D Evaluation

Archives of Plastic Surgery
Background With the advent of cranial orthoses as therapeutic medical devices for the treatment of severe positional head deformities in Japan, an increasing number of patients are being treated with them.
Hiroki Kajita, Ichiro Tanaka, Hiroaki Komuro, Shigeru Nishimaki, Isao Kusakawa, Koichiro Sakamoto   +5 more
doaj   +1 more source

Cranio-facial deformity in the Botticelli’s “Portrait of a Young Man” (NG626)

Journal of Pediatric and Neonatal Individualized Medicine, 2019
Proceedings of the 14th International Workshop on Neonatology • Cagliari (Italy) • October 24th-27th, 2018 • The revolution of microbiomics – Nutrition, bacteria and probiotics in perinatal and pediatric health Guest Editors: Vassilios Fanos (Cagliari ...
Francesco Velardi
doaj   +1 more source