Results 51 to 60 of about 2,045 (160)

Measuring for nonsynostotic head deformities in preterm infants during NICU management: a pilot study

, 2019
Click on the DOI link to access the article (may not be free).Background: Research has focused on the presence of nonsynostotic head deformities (NHD: plagiocephaly, dolichocephaly, brachycephaly) in preterm infants at discharge and within the first year
Hsiao, Robert, Holland, Ruth A., Pitetti, Kenneth H., Willis, Sarah, Lee, Kelly   +4 more
core   +1 more source

Transient B cell lymphopenia revealed by KRECs newborn screening: Post‐screening referral strategies, clinical course, and follow‐up

Pediatric Allergy and Immunology, Volume 37, Issue 7, July 2026.
Isolated low KREC and B‐cell lymphopenia in newborns often resolve spontaneously. This multicenter cohort tracked these cases via telemedicine. Repeating KREC testing on a second dry blood spot (DBS) before specialist referral reduces unnecessary immunologic evaluations.
Guarnieri Valentina, Drago Enrico, Pelosi Caterina, Boscia Silvia, Schena Francesca, Traverso Monica, Aloi Concetta, Salina Alessandro, Palmeri Serena, Cassanello Michela, Maghnie Mohamad, Astorino Valeria, Lodi Lorenzo, Azzari Chiara, Volpi Stefano, Ricci Silvia   +15 more
wiley   +1 more source

Crecimiento postnatal diferenciado del neurocráneo y del viscerocráneo en equinos domésticos

, 2018
Geometric morphometry of 42 equine skulls from different domestic breeds was used. A digital photograph of the dorsal plane of each skull was obtained, on which were placed seven craniometric landmarks, involving both the neuro and the splanchnocranium ...
Leite J.V., Salamanca Carreño, Arcesio, Parés-Casanova P.M., Dantas R., Crosby Granados, René Alejandro, Carolino N., Lopes S.   +6 more
core   +2 more sources

Craniofacial Measurements and Indices Trends in Latvian Children Aged 1–15

Children
Craniofacial development is a critical aspect of pediatric growth, influencing fields such as physical anthropology, pediatrics, forensic sciences, and clinical practice.
Arta Grabcika, Dzintra Kazoka, Janis Vetra, Mara Pilmane   +3 more
doaj   +1 more source

Polycystin-1 modulates RUNX2 activation and osteocalcin gene expression via ERK signalling in a human craniosynostosis cell model

, 2021
Craniosynostosis refers to the premature fusion of one or more cranial sutures leading to skull shape deformities and brain growth restriction. Among the many factors that contribute to abnormal suture fusion, mechanical forces seem to play a major role.
Papavassiliou, K.A., Piperi, C., Basdra, E.K., Papavassiliou, A.G., Zoi, I., Gargalionis, A.N., Panagopoulos, D., Katsianou, M., Themistocleous, M.S.   +8 more
core  

Craniofacial Dysmorphology Associated With Phelan–McDermid Syndrome Using Three‐Dimensional Morphometrics

Clinical Genetics, Volume 109, Issue 6, Page 1070-1075, June 2026.
Using 3D morphometrics quantifies genetic contribution to head and face development. ABSTRACT Phelan–McDermid syndrome (PMS) frequently presents with distinctive facial features, although a typical facial phenotype for this condition has not been well characterized.
Katherine Weisensee, Sara M. Sarasua, Lior Rennert, Curtis Rogers, Katy Phelan, Kara Powder, Luigi Boccuto   +6 more
wiley   +1 more source

Shprintzen-Goldberg Syndrome: Case Report

, 2018
Shprintzen-Goldberg syndrome is a rare syndrome with craniosynostosis of coronal, sagittal or lambdoidal sutures, dolichocephaly, typical craniofacial features, skeletal abnormalities, scoliosis, joint hyperextensibility or contractures, neurological ...
Yuregir, Ozge Ozalp, Aslan, Huseyin, Yalcintepe, Sinem, Bozdogan, Sevcan Tug   +3 more
core   +1 more source

Multi‐Level Genomic and Computational Analyses Identify a Novel IFT122 Variant Associated With Cranioectodermal Dysplasia 1 in a Consanguineous Saudi Family

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
Integrated phenotypic, genomic and computational analyses identified a novel homozygous IFT122 variant causing cranioectodermal dysplasia 1. Structural modeling predicts destabilization of IFT122 protein and altered interactions within the IFT‐A complex, supporting its pathogenicity.
Deema Aljeaid, Abdulrahman Almadiny, Khalidah K. Nasser, Mahmoud Almutadares, Noha M. Issa   +4 more
wiley   +1 more source

Mosaic monosomy 14: clinical features and recognizable facies

, 2004
A 1-year-old child with clinical features of monosomy 14 is reported. She has dysmorphic facial features including ocular colobomata, dolichocephaly and microcephaly, retinal pigmentation, severe seizures, fair curly hair and tapering fingers.
McConnell, V., McManus, D., Derham, R., Morrison, Patrick   +3 more
core   +1 more source

Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review

Muscle &Nerve, Volume 73, Issue 4, Page 517-526, April 2026.
ABSTRACT CNTNAP1 encodes the Contactin‐Associated Protein 1 (CNTNAP1), also known as Caspr1, which is a transmembrane protein critical for nervous system function. CNTNAP1 is localized to the paranodal regions of all myelinated axons, flanking either side of the node of Ranvier.
Lacey B. Sell, Derek Garcia, Alexandra Hollá, Ilana Chilton, Seth DeVries, Ana María Gómez‐Moreno, Manuel Lubián‐Gutiérrez, Qian Shi, Manzoor A. Bhat   +8 more
wiley   +1 more source