Results 11 to 20 of about 2,045 (160)

Changes in Cranial Shape and Developmental Quotient at 6 Months of Age in Preterm Infants

Children, 2023
The purpose of this study was to investigate changes in cranial shape among preterm neonates aged 1–6 months and the relationship between developmental quotient (DQ) and cranial shape at 6 months of age.
Aya Nakanomori, Hiroshi Miyabayashi, Yukari Tanaka, Taishin Maedomari, Chihiro Mukai, Katsuya Saito, Aya Okahashi, Nobuhiko Nagano, Ichiro Morioka   +8 more
doaj   +2 more sources

Stereophotogrammetry can feasibly assess ‘physiological’ longitudinal three-dimensional head development of very preterm infants from birth to term

Scientific Reports, 2022
Head development is a surrogate for brain development in infants and is related to neurocognitive outcome. There is only limited knowledge on early extra-uterine head shape and size assessment in very preterm infants. Here, 26 very preterm infants with a
Jana-K. Dieks, Laura Jünemann, Kai O. Hensel, Charlotte Bergmann, Stefan Schmidt, Anja Quast, Sebastian Horn, Matthias Sigler, Philipp Meyer-Marcotty, Petra Santander   +9 more
doaj   +2 more sources

Stereophotogrammetric head shape assessment in neonates is feasible and can identify distinct differences between term-born and very preterm infants at term equivalent age

Scientific Reports, 2021
The development of head shape and volume may reflect neurodevelopmental outcome and therefore is of paramount importance in neonatal care. Here, we compare head morphology in 25 very preterm infants with a birth weight of below 1500 g and / or a ...
Petra Santander, Anja Quast, Johanna Hubbert, Laura Juenemann, Sebastian Horn, Kai O. Hensel, Philipp Meyer-Marcotty, Jana-Katharina Dieks   +7 more
doaj   +2 more sources

Identification of the audiological and temporal bone radiology manifestations of SOFT syndrome: a case report

The Egyptian Journal of Otolaryngology, 2023
Background SOFT syndrome is characterized by prenatal onset growth retardation, brachydactyly, onychodysplasia, postpubertal onset hypotrichosis, normal psychomotor development, and facial dysmorphism including dolichocephaly, elongated triangular face ...
Sema Satici, Ahsen Kartal, Elif Dilara Topcuoglu, Zahra Polat   +3 more
doaj   +2 more sources

Novel compound heterozygous WDR35 variants in a Chinese patient associated with cranioectodermal dysplasia and ectopic testis: a case report and review of the literature

BMC Pediatrics, 2023
Background WDR35 variants are known to cause a rare autosomal recessive disorder-Cranioectodermal dysplasia (CED). The CED patients are commonly present with facial dysmorphisms (frontal bossing and low-set ears), sagittal craniosynostosis, growth ...
Lijie Li, Cuihua Liu, Ming Tian, Guangbo Li, Jitong Li   +4 more
doaj   +2 more sources

Secular trends in cranial size and shape among black South Africans over the late 19th and 20th centuries

Annals of Human Biology, 2020
Background Previous studies of secular change in cranial size among black South Africans have produced conflicting results. Aim We re-examined cranial size change in this population during the 19th and 20th century by evaluating its relationship with ...
Frederick E. Grine, Christine Lee, Carrie S. Mongle, Brendon K. Billings, Ian J. Wallace, Victor Mngomezulu   +5 more
doaj   +2 more sources

Chromosome 20p Partial De Novo Duplication Identified in a Female Paediatric Patient with Characteristic Facial Dysmorphism and Behavioural Anomalies

Case Reports in Genetics, 2020
Copy number variations (CNVs) involving the JAG1 gene are rare and infrequently reported in the scientific literature. Recently, a generally healthy young patient presenting with a history of behavioural concerns was referred to us.
Shahzaib Khattak, Meryam Jan, Sara Warsi, Sohail Khattak   +3 more
doaj   +2 more sources

Dolichocephaly, Arachnodactyly, Diplopia, and Distal Myopathy - Novel Phenotype of MICU1 Variant c.553C>T. [PDF]

Cureus
Pathogenic variants in mitochondrial calcium uptake 1 (MICU1) manifest phenotypically heterogeneously but most frequently in the brain and skeletal muscle. Dolichocephaly, arachnodactyly, diplopia, and distal myopathy have not been reported in carriers of a pathogenic MICU1 variant. The patient is a 23-year-old female with consanguineous parents (first
Finsterer J, Barwari A.
europepmc   +3 more sources

Síndrome de Dandy-walker The Dandy-Walker syndrome. Report of four cases

Arquivos de Neuro-Psiquiatria, 1973
São relatados os casos de 4 pacientes com síndrome de Dandy-Walker diagnosticada pela pneumencefalografia fracionada e ventriculografia. O tratamento e a patogenia desta malformação são discutidos com base em dados embriológicos.Four cases of Dandy ...
Jaderson Costa da Costa, Adão Anicet, Mario Ferreira Coutinho   +2 more
doaj   +1 more source

Mosaic Trisomy 18 in a Five-Month-Old Infant [PDF]

Case Reports in Pediatrics, 2013
Individuals with mosaic trisomy 18, only approximately 5% of all trisomy 18 cases, carry both a trisomy 18 and an euploid cell line. Their clinical findings are highly variable, from the absence of dysmorphic features to the complete trisomy 18 syndrome.
Ana Laura Fitas, Mafalda Paiva, Ana Isabel Cordeiro, Luís Nunes, Gonçalo Cordeiro-Ferreira   +4 more
doaj   +2 more sources