Results 61 to 70 of about 40,078 (160)

Chondroectodermal dysplasia (Ellis van Creveld syndrome): A report of three cases with review of literature

Indian Journal of Dental Research, 2007
Chondroectodermal dysplasia is a rare mesenchymal - ectodermal dysplasia first described in 1940 by Richard W.B. Ellis and Simon van Creveld now known as Ellis van Creveld syndrome. It is also known as Mesvectodermal dysplasia.
Kurian K, Shanmugam S, Harsh Vardah T, Gupta Siddharth   +3 more
doaj  

Skeletal Anomalies

Donald School Journal of Ultrasound in Obstetrics and Gynecology, 2007
LE Machado, F Bonilla-Musoles, N Obsborne, M Sanz, F Raga, F Machado, F Bonilla, M Dolz   +7 more
openaire   +1 more source

Identification of the CFAP410 Pathogenic Variants in a Korean Patient with Autosomal Recessive Retinitis Pigmentosa and Skeletal Anomalies. [PDF]

Korean J Ophthalmol, 2020
Shin DH, Kim AR, Woo HI, Jang JH, Park WY, Kim BJ, Kim SJ.   +6 more
europepmc   +1 more source

Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L769V Mutation in SCN4A. [PDF]

Front Neurol, 2020
Elia N, Nault T, McMillan HJ, Graham GE, Huang L, Cannon SC.   +5 more
europepmc   +1 more source

A 6-year Experience of Fetal Skeletal Anomalies Prenatal Diagnosis at Anomaly Clinic, Siriraj Hospital

Siriraj Medical Journal, 2006
Objective: The purposes of this study were to review the prevalence of skeletal dysplasias among fetal anomaly cases and to demonstrate common findings detected prenatally by ultrasonography. Methods: Twenty prenatal cases diagnosed of skeletal anomalies
Kusol Russameecharoen, Buraya Phattanachindakun, Siripong Swasdimongkol, Chanchai Vantanasiri, Sommai Viboonchard   +4 more
doaj  

Corrigendum: Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L796V Mutation in SCN4A. [PDF]

Front Neurol, 2020
Elia N, Nault T, McMillan HJ, Graham GE, Huang L, Cannon SC.   +5 more
europepmc   +1 more source

Neonatal Diabetes Mellitus Due to Homozygous ZNF808 Mutation Associated With Skeletal Anomalies: A Novel Presentation of Pancreatic Agenesis-3. [PDF]

Cureus
Alquraishi AS, Saad MM, Rayees S.
europepmc   +1 more source

Further Exploring the TRRAP Genotype-Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies. [PDF]

Clin Genet
Minotti C, Terreri S, Del Fattore A, Lepri FR, Ruta R, Iascone M, Pezzoli L, Dentici ML, Novelli A, Armando M, Longo D, Novelli G, Barbuti D, Bartuli A, Cavallari U, Graziani L, Digilio MC, Sinibaldi L.   +17 more
europepmc   +1 more source

The Benefits of a Surgery-First Approach in Promoting the Psychological Well-Being of Patients with Skeletal Anomalies and Temporomandibular Disorder. [PDF]

Medicina (Kaunas)
Andreea SA, Costan VV, Panaite T, Gradinariu AI, Jehac AE, Armencia AO, Balcos C, Zetu IN.   +7 more
europepmc   +1 more source

Expanding the clinical spectrum: A case report of the first Jordanian presentation of KID syndrome with neurological and skeletal anomalies beyond the classical triad. [PDF]

Medicine (Baltimore)
Al-Bustanji R, AlRababah BK, Rumman MSA, Abukhaled Y, Al-Rabadi N, Younis HKB, Ghalyon G, Al-Tawalbeh S, Aloudat O, Alrashdan MMM, Yamin MT, Maaita M, Salah AKD, Satari A.   +13 more
europepmc   +1 more source