Results 91 to 100 of about 2,045 (160)

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

, 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.
Fitas, AL, Paiva, M, Cordeiro Ferreira, G, Nunes, L, Cordeiro, AI   +4 more
core  

Clinical and biochemical experience of mucopolysaccharidosis in Cartagena de Indias. Colombia

Revista Ciencias Biomédicas, 2013
Introduction: mucopolysaccharidoses known as MPS are a group of hereditary metabolic diseases, caused by the absence or bad functioning of certain lysosomal enzymes necessary for the processing of molecules called glycosaminoglycans (GAGs ...
Alvear-Sedan Ciro César, Barboza-Ubarnes Miriam, Grijalba-Romero Miguel Ángel   +2 more
doaj  

Types of dog skull

, 2017
Nowadays more than 400 dog breeds exist all over the world. Domestic dog breeds are known for their great variability concerning their skull shapes.Some of the dog skull conformations take their name by their resemblance to human craniosynostoses and ...
Tsoukka, Panagiotis
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Head Shape and Size of Adult Males as Possible Indicators of Childhood Stress in Northern Jordan (1900–1978): A Study in Human Biology and Political Economy

, 2008
Stature, sitting height, stature by weight, and head circumference change with varying economic conditions during early childhood. Our hypothesis is that adult head shape, as well as head size, is influenced by changes in childhood nutrition.
Abu Dalou, Ahmad Y, Al-Shiyab, Abdel-Halim, Benfer, Jr., Robert A   +2 more
core  

IFT43-Related Cranioectodermal Dysplasia Type 3: Clinical and Molecular Insights from the First Reported Turkish Patient. [PDF]

Mol Syndromol
Kocagil S, Gölcür H, Aynacı S, Çilingir O.   +3 more
europepmc   +1 more source

New population-specific cephalic index standards for Malaysian subadults: prevalence, growth patterns, and clinical implications from a CT imaging study. [PDF]

Clinics (Sao Paulo)
Syed Mohd Hamdan SN, Rahmat RA, Munusamy SM, Ibrahim N.   +3 more
europepmc   +1 more source

Liveborn trisomy 22: a case report. [PDF]

Front Pediatr
Jares Baglivo S, Morand MP, Velagaleti GVN, Jain SK, Cooney E.   +4 more
europepmc   +1 more source

Analysis of prenatal ultrasound in diagnosing fetal craniosynostosis and its correlation with genetic anomalies: description of two cases and literature analysis. [PDF]

Quant Imaging Med Surg
Li C, Zhang C, Ge T, Tang Z, Song X, Lin X, Xie L.   +6 more
europepmc   +1 more source

Case Report: Hyperinsulinemic hypoglycemia and arterial aneurysms in KAT6B-related disorder: case observation and literature perspective. [PDF]

Front Endocrinol (Lausanne)
Improda N, Rosanio FM, Ballarin G, Acquaviva F, di Nardo G, Lepore L, Pascarella A, Mirra V, Licenziati MR.   +8 more
europepmc   +1 more source

Skull Indices in a Population Collected From Computed Tomographic Scans of Patients with Head Trauma

It is important to find out the skull’s anatomic indices with computed tomography (CT), especially the skull’s dimensions according to the patients age and sex, because it can give important results in neurosurgery.
Eskandary, Hossein, Zangiabadi, Nasser, Nematollahi-mahani, Seyed Noureddin   +2 more
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