Results 141 to 150 of about 3,806 (220)

Perioperative Care of a Pediatric Patient With Beals Syndrome. [PDF]

J Med Cases
Wrona A, Holladay J, Tobias JD.
europepmc   +1 more source

Brittle cornea syndrome: Integrating unique presentations and novel management options.

Oman J Ophthalmol
Balakrishnan J, Bari A, Maharana PK, Agarwal T, Dada T, Sharma N.   +5 more
europepmc   +1 more source

Rheumatic and musculoskeletal disorders in musicians: risks, adaptations and management. [PDF]

RMD Open
Autret L, Shipley É, Lodde B, Hinojosa-Azaola A, Saraux A.   +4 more
europepmc   +1 more source

Congenital Heart Defects and Skeletal Malformations Syndrome (CHDSKM) Associated with the <i>ABL1</i> Gene in a Peruvian patient: Case Report. [PDF]

Clin Med Insights Cardiol
Arauco-Lázaro D, Purizaca-Rosillo ND, Rojas-Huillca MA, Vásquez-Villanueva S, Gutierrez EL.   +4 more
europepmc   +1 more source

Novel Ataxia Telangiectasia and Rad3-Related Protein (ATR) Phenotype: Marfanoid Appearance, Generalized Hypermobility, Gait Imbalance, and Poor Wound Healing: A Case Report. [PDF]

Cureus
Sadler ZA, Unger MD.
europepmc   +1 more source

Congenital Diaphragmatic Hernia and Joint Laxity: A Putative Link with Heritable Connective Tissue Disorders. [PDF]

Genes (Basel)
Di Pede A, Magliozzi M, Valfré L, Dentici ML, Pugnaloni F, Alesi V, Conforti A, Capolupo I, Braguglia A, Dotta A, Bagolan P, Novelli A, Digilio MC.   +12 more
europepmc   +1 more source

Radiologic Diagnosis of Arterial Tortuosity Syndrome in a Pediatric Patient: A Case Report. [PDF]

Cureus
Salah Alkooheji A, Nicola Kalis N, Koç G, AlAmer S, Arulselvam V.   +4 more
europepmc   +1 more source

First-Trimester Aortic Root Replacement in a Pregnant Woman with Previously Undiagnosed Marfan Syndrome. [PDF]

Eur J Case Rep Intern Med
Abbay A, Ibrayev T, Mukarov M, Talkhatova S, Murzagaliyev M.   +4 more
europepmc   +1 more source

Atlanto-axial rotatory fixation in a girl with Spondylocarpotarsal synostosis syndrome [PDF]

Ali Al Kaissi, Farid Ben Chehida, Hassan Gharbi, Maher Ben Ghachem, Franz Grill, Klaus Klaushofer, Herzka Andrea, LO Langer Jr, LH Seaver, JH Harris, WE Chamberlain, AE Muniz, WA Phillips, EM Corner, JK Burkus, MB Coutts, L Chiapparini, P Grisel, WW Parke, JW Fielding, JW Fielding, W Hobbs, BA Akbarnia, S Ayme, KEFA Coelho, C Honeywell, LO Langer, AA Kaissi   +27 more
core   +1 more source

Cutis Laxa Type 1 B with Recurrent E57K Variation.

Indian J Dermatol
Singh A, Janani G, Abhinay A, Prasad R.
europepmc   +1 more source