Results 161 to 170 of about 43,400 (289)

High‐ and Ultra‐High‐Frequency Ultrasound Identifies a Subclinical Link Between Suppurative Comedonal Nevus and Hidradenitis Suppurativa

Journal of Ultrasound in Medicine, EarlyView.
Suppurative nevus comedonicus (SNC) is a variant of nevus comedonicus in which the characteristic features coexist with recurrent inflammatory lesions that clinically resemble those of hidradenitis suppurativa (HS). We present the ultrasound characteristics of this entity and emphasize the value of high‐resolution dermatologic ultrasound both as a ...
Marta Ivars, Katia Henostroza, Fabià Torres‐Betato, Eva Vilarrasa, Ximena Wortsman   +4 more
wiley   +1 more source

Exploring Prenatal Signs of Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal Anomalies (CLOVES) Syndrome: A Case Report and Literature Review. [PDF]

Cureus
Henuzet E, Boon L, Dumitriu D, Peetermans L, Steenhaut P.   +4 more
europepmc   +1 more source

Nevus Sebaceus: A Cross‐Specialty Survey of Clinical Management in Ireland

JEADV Clinical Practice, EarlyView.
ABSTRACT Background Nevus sebaceus (NS) is a congenital benign hamartomatous malformation typically appearing on the scalp and face as a yellow/orange hairless plaque. Benign secondary tumours can develop but malignant transformation is exceptionally rare.
B. Nolan, M. Murphy, C. O'Connor
wiley   +1 more source

Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center. [PDF]

Sci Rep
Xue H, Yu A, Zhao W, Chen L, Fang R, Ling W, Zhang L, Guo Q, Lin N, Xu L, Huang H.   +10 more
europepmc   +1 more source

Effects of rearing conditions on skeletal anomalies typology and frequency in gilthead seabream Sparus auratus juveniles.

, 2012
This study analyzed different lots of gilthead seabream juveniles outcoming from the same egg batch, but reared under different (intensive vs semi-intensive) conditions aimed at: (1) quantitatively and qualitatively analyzing whether differences in ...
CATAUDELLA, STEFANO, Makridis, P, Cataudella, S, PALAMARA, ELISA, SCARDI, MICHELE, Palamara, E, BOGLIONE, CLARA, Scardi, M, Boglione, C, Spanò, A, Rimatori, V, Prestinicola, L   +11 more
core  

Endoscopic‐Assisted Transcervical Excision of Second Branchial Cleft Anomalies in Young Children

The Laryngoscope, EarlyView.
We describe an endoscopic‐assisted transcervical technique for excision of second branchial cleft anomalies in young children. In three cases (ages 2–8), this approach allowed safe identification and ligation of the tracts while providing improved visualization and allowing smaller incisions.
Thinh T. Kieu, Hosam H. Alkhatib, Shaunak Amin, Sheng Zhou, Kaalan Johnson   +4 more
wiley   +1 more source

Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies. [PDF]

Eur J Hum Genet
Micale L, Vourlia A, Fusco C, Pracella R, Karagiannis DC, Nardella G, Vaccaro L, Leone MP, Gramazio A, Dentici ML, Aiello C, Novelli A, Xenou L, Sui Y, Eichler EE, Cacchiarelli D, Mavrothalassitis G, Castori M.   +17 more
europepmc   +1 more source

Skeletal Anomalies in The Neandertal Family of El Sidrón (Spain) Support A Role of Inbreeding in Neandertal Extinction. [PDF]

Sci Rep, 2019
Ríos L, Kivell TL, Lalueza-Fox C, Estalrrich A, García-Tabernero A, Huguet R, Quintino Y, de la Rasilla M, Rosas A.   +8 more
europepmc   +1 more source

Continuous Intrajejunal Levodopa–Carbidopa Infusion in Parkinson's Disease Associated with 22q11.2 Deletion Syndrome: A Case Series

Movement Disorders Clinical Practice, EarlyView.
Abstract Background 22q11.2 deletion syndrome (22q11DS) is a multisystem genetic disorder associated with a significantly increased risk of early‐onset Parkinson's disease (EOPD). Management is challenging because psychiatric and cognitive comorbidities often limit advanced therapies such as deep brain stimulation (DBS). Cases We report 2 patients with
Valle Victor Andrés, Jardel Amory, Hopes Lucie, Clément Guillemette, Lambert Laetitia, Becker Aurélie, Dexheimer Mylène, Bonnet Céline, Frismand Solène, Renaud Mathilde, Puisieux Salomé   +10 more
wiley   +1 more source

A Novel Homozygous Missense <i>SCUBE3</i> Variant with Protein Modeling in a Patient Diagnosed as Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 2. [PDF]

Mol Syndromol
Yeter B, Yeter B, Sezgin BI, Dilek YE, Kendir Demirkol Y, Selamioğlu A, Kırmızıbekmez H, Kaymakçalan Çelebiler H, Bayram Akçapınar G.   +8 more
europepmc   +1 more source