Results 31 to 40 of about 698 (166)
Allergy & Rhinology, 2015 Background Cerebrospinal fluid (CSF) rhinorrhea and encephaloceles are rare complications of craniofacial advancement procedures performed in patients with craniofacial dysostoses (CD) to address the ramifications of their midface hypoplasia including ...
Bharat A. Panuganti M.D. +2 more
doaj +1 more source
Prenatal sonographic diagnosis of Nager acrofacial dysostosis with unilateral upper limb involvement [PDF]
, 2008 No Abstract.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/61218/1/2074_ftp ...
Aylsworth +9 more
core +1 more source
CDK1 and CDK2 regulate NICD1 turnover and the periodicity of the segmentation clock [PDF]
, 2019 All vertebrates share a segmented body axis. Segments form from the rostral end of the presomitic mesoderm (PSM) with a periodicity that is regulated by the segmentation clock.
Carrieri, Francesca +5 more
core +3 more sources
Maxillary Changes Following Facial Bipartition – A Three-Dimensional Quantification [PDF]
, 2021 INTRODUCTION: Children with Apert syndrome have hypertelorism and midfacial hypoplasia, which can be treated with facial bipartition (FB), often aided by rigid external distraction.
Dunaway, DJ +7 more
core
Prenatal Diagnosis, EarlyView.ABSTRACT The clinical utility of sequencing in prenatal diagnosis is known, but diagnostic yield varies widely depending on clinical indication. Here we update an earlier systematic review reporting the diagnostic yield of prenatal sequencing in structurally abnormal fetuses, with particular focus on factors affecting diagnostic yield.
Karen Mei Xian Lim +5 more
wiley +1 more source
International Journal of Dentistry, Volume 2018, Issue 1, 2018., 2018 Introduction. Cleidocranial dysplasia (CCD) is an inherited disease caused by mutations in the RUNX2 gene on chromosome 6p21. This pathology, autosomal dominant or caused by a spontaneous genetic mutation, is present in one in one million individuals, with complete penetrance and widely variable expressivity. Aim.
A. Impellizzeri +6 more
wiley +1 more source
Pathways to enhancing prenatal diagnosis of skeletal dysplasias
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Michelle Joy Wang +4 more
wiley +1 more source
Cleidocranial Dysplasia: A Case Report Highlighting Dental, Craniofacial, and Skeletal Complexity
Clinical Case Reports, Volume 13, Issue 9, September 2025.ABSTRACT Cleidocranial dysplasia (CCD) is a rare congenital skeletal disorder characterized by clavicular hypoplasia, craniofacial anomalies, and complex dental abnormalities, commonly caused by RUNX2 gene mutations. This report describes a 25‐year‐old female who presented with acute dental pain.
Akash Kumar Giri +2 more
wiley +1 more source
A new biometric: In utero growth curves for metacarpal and phalangeal lengths reveal an embryonic patterning ratio. [PDF]
, 2019 OBJECTIVES: The objectives of this study are to develop gestational age-specific growth curves for fetal third metacarpal and phalangeal lengths and to determine if fetal hand proportion is established in utero.
Afshar, Yalda +5 more
core +1 more source
Artificial intelligence‐based diagnosis in fetal pathology using external ear shapes
Prenatal Diagnosis, Volume 44, Issue 10, Page 1150-1158, September 2024.Abstract Objective Here we trained an automatic phenotype assessment tool to recognize syndromic ears in two syndromes in fetuses—=CHARGE and Mandibulo‐Facial Dysostosis Guion Almeida type (MFDGA)—versus controls. Method We trained an automatic model on all profile pictures of children diagnosed with genetically confirmed MFDGA and CHARGE syndromes ...
Quentin Hennocq +14 more
wiley +1 more source