Results 61 to 70 of about 2,629 (212)
Cri du chat syndrome : a critical review [PDF]
, 2010 A new syndrome was identified in 1963, when Lejeune et al. reported a genetic disease resulting from a partial or total deletion on the short arm of chromosome 5 (5p-) and named it the cri du chat syndrome (CdCS).
Hernández Guisado, J. M. +5 more
core +1 more source
Biomédica: revista del Instituto Nacional de Salud, 2022 El síndrome de Adams-Oliver es un trastorno congénito raro, caracterizado por aplasia cutis congénita en el cuero cabelludo, defectos terminales transversales de las extremidades y piel marmorata telangiectásica congénita. Este puede presentarse debido a
Olga Lucía Morales +2 more
doaj +1 more source
PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol [PDF]
, 2013 PTEN hamartoma tumor syndromes (PHTS) are a spectrum of hamartomatous overgrowth syndromes associated with germline mutations in the tumor suppressor PTEN gene located on 10q23.3.
Antona, V +5 more
core +1 more source
Случай локальной врожденной телеангиэктатической мраморной кожи [PDF]
, 2016 КОЖНЫЕ БОЛЕЗНИВРОЖДЕННАЯ ТЕЛЕАНГИЭКТАТИЧЕСКАЯ МРАМОРНАЯ КОЖАКОНЕЧНОСТЬ НИЖНЯЯ /ПАТОЛНОВОРОЖДЕННЫЙ, БОЛЕЗНИБЕРЕМЕННОСТИ ОСЛОЖНЕНИЯРОДЫ ПРЕЖДЕВРЕМЕННЫЕ (29-38 НЕДЕЛЬ)КЛИНИЧЕСКИЕ ...
Жакова, Е. Л. +4 more
core
Pathophysiological and diagnostic implications of cardiac biomarkers and antidiuretic hormone release in distinguishing immersion pulmonary edema from decompression sickness [PDF]
, 2016 Immersion pulmonary edema (IPE) is a misdiagnosed environmental illness caused by water immersion, cold, and exertion. IPE occurs typically during SCUBA diving, snorkeling, and swimming.
Algoud, Maxime +19 more
core +1 more source
Laseroterapia malformacji naczyniowej cutis marmorata telangiectatica congenita [PDF]
, 2023 The purpose of this study is to determine a long-term effectiveness of a 532 nm and 1064 nm large spot laser with contact cooling in the treatment of CMTC.
Kwiek, Bartłomiej +3 more
core +2 more sources
Adams-Oliver syndrome, a successful conservative approach for a large scalp defect
Journal of Pediatric and Neonatal Individualized Medicine, 2015 Adams-Oliver syndrome was first described in 1945 as a multiple congenital malformations association including aplasia cutis congenita and terminal transverse limb defects, along with cardiovascular and central nervous system anomalies.
Vera Baptista +7 more
doaj +1 more source
Categories of Cutaneous Mosaicism
JEADV Clinical Practice, Volume 4, Issue 3, Page 652-658, August 2025.ABSTRACT In this overview, the following 12 different categories of cutaneous mosaicism are considered: (1) Discrimination between monoallelic and biallelic mosaicism in autosomal dominant traits; (2) Segmental versus disseminated mosaicism in autosomal dominant disorders.
Rudolf Happle
wiley +1 more source
Physiological changes of the skin during pregnancy
Vestnik Dermatologii i Venerologii, 2020 The appearance of skin changes during pregnancy is inevitable and physiologically determined. This period is characterized by hormonal, immunological and metabolic changes and associated physiological changes in the skin.
Vera I. Albanova
doaj +1 more source
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 +5 more
doaj +1 more source