Results 31 to 40 of about 2,045 (160)

A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family: Case Report, Differential Diagnosis, and Review of Mutations of NSD1 Gene in Familial Sotos Syndrome

Frontiers in Pediatrics, 2017
Sotos syndrome (SoS) is characterized by overgrowth of prenatal onset, learning disability, and characteristic facial appearance; it is usually due to haploinsufficiency of NSD1 gene at chromosome 5q35. An Italian child was born at 37 weeks of gestation (
Gianluigi Laccetta, Francesca Moscuzza, Angela Michelucci, Andrea Guzzetta, Sara Lunardi, Francesca Lorenzoni, Paolo Ghirri   +6 more
doaj   +1 more source

Case Report: Potocki-Lupski Syndrome in Five Siblings

Frontiers in Pediatrics, 2021
Potocki-Lupski syndrome (PTLS) is a rare developmental disorder resulting from the partial duplication of the short arm of chromosome 17. Affected children may have hypotonia, facial dysmorphism, or neurological abnormalities.
Alina Grama, Alina Grama, Claudia Sîrbe, Claudia Sîrbe, Diana Miclea, Simona Sorana Cǎinap, Simona Sorana Cǎinap, Delia Huniadi, Bogdan Bulata, Tudor Lucian Pop, Tudor Lucian Pop   +10 more
doaj   +1 more source

In the Eye of the Beholder: Owner Preferences for Variations in Cats’ Appearances with Specific Focus on Skull Morphology

Animals, 2018
Changes in the popularity of cat breeds are largely driven by human perceptions of, and selection for, phenotypic traits including skull morphology. The popularity of breeds with altered skull shapes appears to be increasing, and owner preferences are an
Mark J. Farnworth, Rowena M. A. Packer, Lorena Sordo, Ruoning Chen, Sarah M. A. Caney, Danièlle A. Gunn-Moore   +5 more
doaj   +1 more source

Genetic Bone Diseases: A Scoping Review of Pathology, Symptoms, Diagnosis, Treatment, and New Horizons. [PDF]

Adv Genet (Hoboken)
This review highlights six genetic diseases of the bone, aiming to provide clinicians and researchers with updated information on their diagnosis and treatment. It also includes an assessment of common clinical and radiographic findings, along with pathophysiology related to diseases.
Jones C, Jayasuriya AC.
europepmc   +2 more sources

Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3

Molecular Genetics & Genomic Medicine, 2021
Background 3MC syndrome type 3 is an autosomal recessive disorder caused by mutations in the COLEC10 gene besides other genes like COLEC11 and MASP1. This disorder is characterized by facial dysmorphism, cleft lip and palate, postnatal growth deficiency,
Pouria Mohammadi, Elham Salehi Siavashani, Mohammad Farid Mohammadi, Afshin Bahramy, Navid Almadani, Masoud Garshasbi   +5 more
doaj   +1 more source

Novel chromosomal microduplications associated with dolichocephaly craniosynostosis

Medicine, 2017
Craniosynostosis is a human disorder characterized by the premature fusing of the cranial sutures in infants. Point mutations in hotspot genes such as FGFRs are the well-recognized causes of syndromic craniosynostosis, but chromosomal abbreviations may also play an important role in developing this disease. Here, we report the case in China of a 2-year-
Yu, Dongyi, Li, Shuo, Liu, Qi, Zhang, Kai   +3 more
openaire   +2 more sources

Ueber Dolichocephalie und Brachycephalie. Zur Kritik der Index-Angaben. [PDF]

Biometrika, 1907
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P., K., Johannsen, W.
openaire   +1 more source

Can trans-cerebellar diameter supersede other fetal biometry in measuring gestational age? A prospective study

The Egyptian Journal of Radiology and Nuclear Medicine, 2021
Background Estimation of gestational age plays a pivotal role in day to day clinical practice for appropriate management of newborn. The trans-cerebellar diameter can predict gestational age in cases of variations of fetal head shape such as ...
Rintu George, Umamageswari Amirthalingam, Mohamed Rafi Kathar Hussain, Vigneshwar Aditiya, A. M. Anand, Elamparidhi Padmanaban, N. Kulasekeran   +6 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

Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome

Frontiers in Genetics, 2023
FOXC1 is a ubiquitously expressed forkhead transcription factor that plays a critical role during early development. Germline pathogenic variants in FOXC1 are associated with anterior segment dysgenesis and Axenfeld-Rieger syndrome (ARS, #602482), an ...
Alexandra Garza Flores, Alexandra Garza Flores, Ida Nordgren, Maria Pettersson, Maria Pettersson, Dora Dias-Santagata, Daniel Nilsson, Daniel Nilsson, Anna Hammarsjö, Anna Hammarsjö, Anna Lindstrand, Anna Lindstrand, Dominyka Batkovskyte, Janey Wiggs, David S. Walton, Paula Goldenberg, Jesper Eisfeldt, Jesper Eisfeldt, Angela E. Lin, Ralph S. Lachman, Ralph S. Lachman, Ralph S. Lachman, Gen Nishimura, Gen Nishimura, Giedre Grigelioniene, Giedre Grigelioniene, Giedre Grigelioniene   +26 more
doaj   +1 more source