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Anauxetic Dysplasia: A Rare Clinical Entity
(Turkish J Pediatrics, 2018)
Cartilage hair hypoplasia and anauxetic dysplasia spectrum constitute a group of autosomal recessive disorders characterized by variable extent of metaphyseal to spondylometaepiphyseal involvement and various additional ...
Dermal Fibroblast Transcriptome Indicates Contribution Of Wnt Signaling Pathways In The Pathogenesis Of Apert Syndrome
(Turkish J Pediatrics, 2017)
Cranial sutures are unossified connective tissue structures between the cranial bones, which allow expansion of these bones during development. Premature ossification of these structures is called craniosynostosis. Apert ...
Epigenotype And Phenotype Correlations In Patients With Beckwith-Wiedemann Syndrome
(Turkish J Pediatrics, 2018)
Beckwith-Wiedemann Syndrome (BWS) is one of the most common overgrowth syndromes. Cancer predisposition is an important feature of this clinically heterogeneous syndrome. Patients may have fetal and early childhood overgrowth, ...
Non-Immune Hydrops Fetalis: A Retrospective Analysis Of 151 Autopsies Performed At A Single Center
(Turkish J Pediatrics, 2018)
We retrospectively evaluated autopsies performed on 151 non-immune hydrops fetalis (NIHF) cases to determine the etiology and pathological findings. Further, cases identified between 1980 and 2004 were compared with those ...
Polyposis Deserves a Perfect Physical Examination for Final Diagnosis: Bannayan-Riley-Ruvalcaba Syndrome
(Turkish J Pediatrics, 2017)
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare autosomal dominant inherited polyposis syndrome characterized by macrocephaly, lipomatosis, hemangiomatosis, intestinal polyposis and pigmented macules on penis. The ...