Results 91 to 100 of about 2,039 (202)

Aplasia Cutis Congenita of the Scalp with a Familial Pattern [PDF]

, 2016
Aplasia Cutis Congenita (ACC) is a condition characterized by congenital absence of skin, usually on the scalp. ACC can occur as an isolated condition or in the presence of other congenital anomalies.
Abdulaziz O. Alabdulkarim, Alhanouf AlOthri, Sara AlFadil, Sari M. Rabah, Shabeer A. Wani, Waleed AlShehri   +5 more
core   +2 more sources

Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1–q24.2 contiguous gene deletion [PDF]

, 2014
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/108054/1/ajmga36569 ...
Bodensteiner, Brain Development Cooperative Group, Butler, Cann, Conway, Conway, Duelli, Gripp, Gripp, Handrigan, Inui, Jones, Kageyama, Kakizawa, Kau, Kumar, Lim, Milbouw, Mizushima, Nishi, Nishi, Nowak, Perez-Nunez, Pichiecchio, Poretti, Santra, Schaefer, Seixas, Takeshima, Tang, Torreman, Vadhvani, van der Knaap, Wilburn   +33 more
core   +1 more source

Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation. [PDF]

, 2016
Wilms tumor and nephroblastomatosis are associated with syndromic conditions including hemihyperplasia. Hemihyperplasia is genetically heterogeneous and may be the result of genomic abnormalities seen in Beckwith-Wiedemann syndrome, mosaic chromosome or ...
Alomari, Beckwith, Castiglioni, Choyke, Clericuzio, Cohen, Ehrich, Forbes, Greene, Gucev, Hoyme, Ikenoue, Kang, Keppler-Noreuil, Keppler-Noreuil, Kurek, Lapunzina, Lapunzina, Lee, Lindhurst, Lonergan, Luks, Mankad, Mirzaa, Murphy, Poduri, Rasmussen, Rios, Riviere, Samuels, Samuels, Sapp, Scott, Scott, Shuman, Wright   +35 more
core   +3 more sources

Cutis Marmorata Telengiectatica Congenita with Kimura’s Disease and Nephrotic Syndrome as a Sequele to Membranoproliferative Glomerulonephritis

Indian Journal of Paediatric Dermatology
Cutis marmorata telangiectatica congenita (CMTC) is a rare capillary malformation characterized by persistent reticulated marbled erythema. A 16-year-old boy presented with reddish net-like lesion over the left side of his body which was initially ...
Shruta Melissa, Ramesh Bhat, Jacintha Martis   +2 more
doaj   +1 more source

Cutis marmorata telangiectatica congenita: an unusual cause of lower extremity hypoplasia

The Turkish Journal of Pediatrics, 2001
Cutis marmorata telangiectatica congenita is a relatively benign, rare cutaneous disorder with various manifestations. A seven-year-old girl, who presented with extremity hypoplasia, had the characteristic reticular, patchy, blue-pink cutaneous ...
S Avci, E Calikoğlu, U Sayli
doaj  

Abnormal “bruising” over the abdomen of a neonate

Pediatric Dermatology, Volume 41, Issue 1, Page 136-138, January/February 2024.
Habibur Rahman, Joseph M. Lam
wiley   +1 more source

The living will - pitfalls, benefits and a way forward [PDF]

, 2007
published_or_final_versio
Hui, EC
core  

Three Cases of Cutis Marmorata Telangiectatica Congenita

Annals of Dermatology, 2001
We report 3 cases of unusual cutis marmorata telangiectatica congenita (CMTC), The ages of the first two cases of CMTC were premature babies, born at intrauterine pregnancy of 31 weeks and 34 weeks; the other patient was a 45-year old female.Compared to the age of other cases reported in the literature, our patients are unusual, It is not surprising ...
Chong Hyeok Kim, Gil Ju Yi
openaire   +2 more sources

Cutis marmorata telangiectatica congenita or congenital generalized phlebectasia. [PDF]

, 1970
J S Fitzsimmons, M Starks
openalex   +1 more source

The VASCERN-VASCA Working Group Diagnostic and Management Pathways for Capillary Malformations

Journal of Vascular Anomalies
Objective:. VASCERN (https://vascern.eu/) is the European Reference Network for Rare Multisystemic Vascular Diseases. VASCERN-VASCA is the working group within VASCERN that focuses on the study of vascular anomalies.
Eulalia Baselga, Rune Andersen, Maria Barea, Miguel Bejarano Serrano, Sigurd Berger, Annouk Bisdorff-Bresson, Olivia Boccara, Maria Bom-Sucesso, Laurence M. Boon, Petra Borgards, Andrea Diociaiuti, Anne Dompmartin, Veronika Dvorakova, May El Hachem, Sofia Frisk, Paolo Gasparella, Nader Ghaffarpour, Emir Haxhija, Thomas Hjuler, Annegret Holm, Mikkel Kaltoft, Friedrich G. Kapp, Kristiina Kyrklund, Alan D. Irvine, Miguel Madureira, Darius Palionis, Jochen Rößler, Päivi Salminen, Jukka Tolonen, Birute Vaisnyte, Caroline Van Den Bosch, Carine van der Vleuten, Leo Schultze Kool, Miikka Vikkula   +33 more
doaj   +1 more source