Results 141 to 150 of about 24,909 (251)

Congenital Adrenal Hyperplasia: A Case Report with Premature Teeth Exfoliation and Bone Resorption [PDF]

, 2015
Congenital adrenal hyperplasia (CAH) is an inherited autosomal recessive disorder characterized by insufficient production of cortisol. The aim of this case report was to present a child with CAH, premature exfoliation of primary teeth and accelerated ...
Angelopoulou, Matina V., Emmanouil, Dimitris E., Kontogiorgos, Elias D.   +2 more
core   +1 more source

Síndroma de Ehlers-Danlos: Uma causa rara de pneumotórax espontâneo Ehlers-Danlos syndrome: A rare cause of spontaneous pneumothorax

Revista Portuguesa de Pneumologia, 2006
A síndroma de Ehlers-Danlos (cutis hyperelastica), constitui uma patologia do tecido conjuntivo caracterizada por alterações da pele, ligamentos e órgãos internos. Apresenta transmissão hereditária, em geral autossómica dominante.
Carlos Lopes, Alda Manique, Renato Sotto-Mayor, Jorge Cruz, Margarida Mendes de Almeida, João Cravino, A Bugalho de Almeida   +6 more
doaj  

Multidisciplinary hybrid approach to management of a thoracoabdominal aneurysm in a patient with both Loeys-Dietz and vascular Ehlers-Danlos syndrome

Journal of Vascular Surgery Cases and Innovative Techniques
Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome are genetic aortopathies that result from abnormal collagen matrix formation associated with vascular complications and early death.
Nicolas A. Stafforini, MD, Nallely Saldana-Ruiz, MD, MPH, Scott DeRoo, MD, Ulrike Schwarze, MD, Matthew P. Sweet, MD, Sara L. Zettervall, MD, MPH   +5 more
doaj   +1 more source

Ehlers-Danlos Syndrome [PDF]

Proceedings of the Royal Society of Medicine, 1970
openaire   +5 more sources

Spontaneous celiac artery aneurysms in 13-year-old and 10-year-old brothers with PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome

Journal of Vascular Surgery Cases and Innovative Techniques
PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome is a rare, autosomal recessive connective tissue disorder characterized by congenital hypotonia, early-onset, progressive kyphoscoliosis, and generalized joint hypermobility. PLOD1-kyphoscoliotic Ehlers-
Apoorva Bhandari, MD, MSc, Victoria Siu, MD, FRCPC, FCCMG, Audra A. Duncan, MD, FACS, FRCSC   +2 more
doaj   +1 more source

Ehlers-Danlos syndrome

The Journal of Pediatrics, 1999
P C, Rowe, D F, Barron, H, Calkins, I H, Maumenee, P Y, Tong, M T, Geraghty   +5 more
openaire   +2 more sources

Sleep-Related Hypoventilation in a Patient With Ehlers-Danlos Syndrome. [PDF]

Cureus
Fong SX, Thomas AP.
europepmc   +1 more source

Insights into TNXB-Related Classical-Like Ehlers-Danlos Syndrome: A Study of Polish Patients. [PDF]

Open Access Rheumatol
Junkiert-Czarnecka A, Pilarska-Deltow M, Kacprzak MM, Łobodzińska A, Sobczyńska-Tomaszewska A, Linkowska K, Grzybowski T, Haus O.   +7 more
europepmc   +1 more source

Heart Rate Variability and Intrinsic Autonomic Coupling in Ehlers-Danlos Syndrome. [PDF]

Cureus
Alauddin W, Radke PM, Janardhana N, Singh I, Sharma A, Arora S, Prajesh BR, Shree R, Shaikh Z.   +8 more
europepmc   +1 more source

The Investigation and Management of the Abdominopelvic Vascular Compression Syndromes in Patients with Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder. [PDF]

Vasc Health Risk Manag
Bruessel P, Govender M, Frahm-Jensen G.
europepmc   +1 more source