Results 81 to 90 of about 4,207 (207)
Prenatal Diagnosis, Volume 45, Issue 11, Page 1433-1441, October 2025.ABSTRACT Objectives Achondroplasia is the most common form of skeletal dysplasia and is usually suspected in the third trimester of pregnancy based on abnormal sonographic findings. Non‐invasive prenatal diagnosis (NIPD), based on the detection of pathogenic FGFR3 variants in maternal plasma, provides an accurate genetic confirmation.
Camille Verebi +12 more
wiley +1 more source
World Journal of Surgery, Volume 49, Issue 10, Page 2794-2800, October 2025.Studies focusing on disease severity and reconstructive surgical treatment's impact on health‐related quality of life (HRQOL) are lacking, particularly in low‐ and middle‐income countries (LMICs). This study aims to assess the impact of reconstructive surgery‐related conditions on basic indicators of quality of life and social integration within the ...
Shireen Dumont +6 more
wiley +1 more source
Journal of Genetic Counseling, Volume 34, Issue 4, August 2025.Abstract This study aims to evaluate parental knowledge and attitudes toward genetic counseling and testing in the context of pediatric plastic surgery in Qatar. It assesses baseline knowledge to identify educational gaps and factors that may contribute to fear or reluctance in managing children with congenital anomalies.
Houda M. Alkilani +6 more
wiley +1 more source
Identification of the molecular basis of the lacrimo-auriculo-dento-digital (LADD) syndrome [PDF]
, 2008 Lacrimo-auriculo-dento-digital (LADD) syndrome, also known as Levy-Hollister syndrome, is a rare autosomal dominant developmental disorder, mainly characterized by abnormalities of the lacrimal system and salivary glands, ears and hearing, teeth and ...
Rohmann, Edyta
core
An exploration of the cognitive, physical and psychosocial development of children with Apert syndrome [PDF]
, 2016 Apert syndrome is a rare condition, with a birth prevalence of approximately 1 in 65 000. This article provides an up to date review of the literature on Apert syndrome from a variety of perspectives, ranging from surgical management to personal accounts.
Hilton, C
core +1 more source
Prenatal Diagnosis, Volume 45, Issue 9, Page 1139-1150, August 2025.ABSTRACT Objective Monogenic disorders (MDs), often associated with developmental delay, intellectual disability, hypotonia, or dysmorphic facial features, typically go undetected during pregnancy. These disorders are frequently caused by de novo single nucleotide variants (SNVs), which are not currently covered by routine non‐invasive prenatal testing
Kristína Valovičová +4 more
wiley +1 more source
Apert Syndrome: orthopedic treatment [PDF]
, 2011 El Síndrome de Apert es un trastorno autosómico dominante, caracterizado por craneosinostosis, hipoplasia del tercio medio de la cara y sindactilia de manos y pies.
Alonso Tajes, Francisco +3 more
core +2 more sources
Crouzon\'s Syndrome: A Case Report
International Journal of Clinical Pediatric Dentistry, 2013 Crouzon's syndrome (CS) is a rare autosomal dominant condition with multiple mutations of the fibroblast growth factor receptor (FGFR2) gene, which accounts for 4.8% of all cases of craniosynostosis. It is characterized by premature closure of cranial sutures, cranial deformities, midface hypoplasia, relative mandibular prognathism, hypertelorism ...
Kumar, G Ravi +3 more
openaire +2 more sources
A Pilot Study to Evaluate Neurodevelopmental Outcomes in a Pediatric Cohort With Genodermatoses
American Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.ABSTRACT Our study aimed to evaluate cognitive function in individuals with genetic skin disorders involving neuroectoderm (n = 8) compared to individuals with only ectoderm or mesoderm (n = 16) involvement. We hypothesized that neuroectodermal involvement would result in poorer neurocognitive performance.
Sneha A. Rangu +10 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.ABSTRACT NM_000141.5: FGFR2 c.1032G>A is a pathogenic variant that causes Crouzon syndrome through activation of a new donor splice site. This clinical report highlights the intrafamilial variability that can exist with this specific variant. The proband is a 4‐year‐old boy who initially presented with concern for seizures.
Jessica T. Ogawa +3 more
wiley +1 more source