Results 51 to 60 of about 2,039 (202)

Born in the Purple: An Exceptional Case of Cutis Marmorata Telangiectatica Congenita [PDF]

, 2020
A full-term, 2-day-old female neonate with a congenital non-tender reticular patch that did not disappear with local warming was referred to our department for consultation.
Efthymia Gialeli, Eleftheria Vryzaki, Georgia Kyriakou, Sophia Georgiou   +3 more
core   +3 more sources

Cutis Marmorata Telangiectatica Congenita in a Preterm Female Newborn: Case Report and Review of the Literature

La Pediatria Medica e Chirurgica, 2014
Cutis Marmorata Telangiectatica Congenita (CMTC) is a rare, sporadic condition usually present at birth characterized by localized or generalized persistent cutis marmorata, telangiectasia and phlebectasia.
C. De Maio, G. Pomero, A. Delogu, E. Briatore, M. Bertero, P. Gancia   +5 more
doaj   +1 more source

Cutis Marmorata Telangiectatica Congenita [PDF]

Archives of Dermatology, 1999
To evaluate the distribution of skin lesions, clinical features, and associated abnormalities in children with cutis marmorata telangiectatica congenita at onset and during follow-up.Retrospective survey of the available medical data with an average follow-up of 1 year 5 months (range, 0-7 years).Pediatric Dermatology Unit (Department of ...
A. C. A. Devillers, Flora B. de Waard‐van der Spek, Arnold P. Oranje   +2 more
openalex   +5 more sources

Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene

Frontiers in Pediatrics, 2023
Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominantly inherited disease characterized by slow mental and physical growth, skeletal abnormalities (broad thumbs and big toes), and dysmorphic facial features.
Yang Yang, Jing Xiao, Yuanyuan Ye, Jianwen Xiang, Zhu Wang, Jia Chen   +5 more
doaj   +1 more source

The Neonate with Minor Dysmorphisms [PDF]

, 2017
Congenital anomalies are present in at least 10% of all neonatal intensive care unit admissions, of whom many have an underlying genetic condition. About 50–60% of human congenital anomalies are of unknown etiology, and approximately one- third are ...
Berceanu, Costin, Boț, Mihaela, Mehedințu, Claudia, Popescu, Simona, Vlădăreanu, Simona   +4 more
core   +2 more sources

Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA [PDF]

, 2020
Megalencephaly-capillary malformation syndrome (MCAP) is a brain overgrowth disorder characterized by cortical malformations (specifically polymicrogyria), vascular anomalies, and segmental overgrowth secondary to somatic activating mutations in the PI3K-
Davis, Shanlee, Deardorff, Matthew A, Grand, Katheryn, Grimberg, Adda, Hsu, Stephanie, Kelsey, Megan, Majidi, Shideh, Matthew, Revi P, McKinnon, Margaret L, Mirzaa, Ghayda, Napier, Melanie, Nokoff, Natalie, Prasad, Chitra, Riggs, Andrew C, Ware, Meredith A, Zeiger, Jordan   +15 more
core   +2 more sources

Unilateral erythema in a newborn

, 2023
JEADV Clinical Practice, Volume 2, Issue 1, Page 196-197, March 2023.
Alice Nadia Rossi, Francesco Paolo Salamone, Martina Mussi, Marco Adriano Chessa, Iria Neri   +4 more
wiley   +1 more source

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. [PDF]

, 2015
BACKGROUND: Adams-Oliver syndrome (AOS) is a rare disorder characterized by congenital limb defects and scalp cutis aplasia. In a proportion of cases, notable cardiac involvement is also apparent.
Brancati, F, Coerdt, W, Collinson, CS, Dallapiccola, B, Digilio, MC, Graul-Neumann, LM, Jacquemin, E, Joss, S, Karountzos, ASV, Machado, RD, Ruddy, D, Salviati, L, Snape, KM, Southgate, L, Sukalo, M, Taylor, EJ, Tolmie, JL, Trembath, RC, Wuyts, W, Zenker, M   +19 more
core   +3 more sources

DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies [PDF]

, 2015
Author contacted for ...
De Smedt, M, Kayserili, H, Kayserili, H, Mundlos, S, Müller, D, Ruddy, DM, Skalej, M, Snape, KM, Southgate, L, Southgate, L, Sukalo, M, Tilsen, F, Trembath, R, Trembath, R, Tüysüz, B, van der Aa, N, Wakeling, E, Wuyts, W, Wuyts, W, Zenker, M, Ørstavik, KH   +20 more
core   +2 more sources

Atypical Adams-Oliver syndrome with typical ocular signs of familial exudative vitreoretinopathy [PDF]

, 2022
AIM: To report an atypical Adams-Oliver syndrome (AOS) family with typical ocular signs of familial exudative vitreoretinopathy (FEVR). METHODS: A patient with visible avascular area and obvious non-perfusion zone in the peripheral retina with systemic ...
En-Zhong Jin, Hong Yin, Lyu-Zhen Huang, Ming-Wei Zhao   +3 more
core   +1 more source