A rare association of right hemicerebral dysgenesis with congenital anophthalmia in a neonate
Sign Up to like & getrecommendations! Published in 2020 at "Child's Nervous System"
DOI: 10.1007/s00381-020-04639-x
Abstract: Congenital anophthalmia is rare and can occur due to various etiologies, including genetic defects, teratogenic exposures, and vascular disruptions. We report a rare case of right-sided congenital anophthalmia and hemicerebral dysgenesis in association with ipsilateral… read more here.
Keywords: congenital anophthalmia; hemicerebral dysgenesis; dysgenesis; rare association ... See more keywords
A rare association: first degree AV block and long QT syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Cardiology in the Young"
DOI: 10.1017/s1047951119000775
Abstract: Abstract The coexistence of long QT syndrome with 2:1 or complete atrioventricular blocks has been reported in the literature, but, to the best of our knowledge, this is the first pediatric case of long QT… read more here.
Keywords: long syndrome; rare association; first degree; degree block ... See more keywords
Rare Association of Hb D-Los Angeles (HBB: c.364G>C) with Hb H Disease: Diagnosis and Clinical Implications
Sign Up to like & getrecommendations! Published in 2018 at "Hemoglobin"
DOI: 10.1080/03630269.2018.1558066
Abstract: Abstract Hb D-Los Angeles (or Hb D-Punjab) (HBB: c.364G > C) is found worldwide and is derived from a point mutation in the β-globin gene prevalent in the Punjab region of Northwestern India. Heterozygous or homozygous inheritance… read more here.
Keywords: rare association; los angeles; los; disease ... See more keywords
Medulloblastoma and Down Syndrome: An Extremely Rare Association.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of pediatric hematology/oncology"
DOI: 10.1097/mph.0000000000002448
Abstract: Medulloblastoma has a reduced incidence in Down syndrome (DS). This protective characteristic has not been clarified yet. Here, we report the second case of SHH medulloblastoma and DS documented in the literature. A complete surgery… read more here.
Keywords: extremely rare; medulloblastoma syndrome; syndrome extremely; hematology ... See more keywords
Rare association of haemophagocytic lymphohistiocytosis (HLH) and antiphospholipid syndrome (APS) in postpartum period: a considerable overlap?
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-247376
Abstract: Haemophagocytic lymphohistiocytosis (HLH) is an aggressive and life-threatening disease of disproportionate immune activation. We present a case of a 25-year-old woman who is postnatal day 26 status post lower segment caesarean section who came with… read more here.
Keywords: hlh; lymphohistiocytosis hlh; syndrome; rare association ... See more keywords
The Rare Association of Tetralogy of Fallot and ALCAPA
Sign Up to like & getrecommendations! Published in 2019 at "Brazilian Journal of Cardiovascular Surgery"
DOI: 10.21470/1678-9741-2019-0139
Abstract: Brazilian Journal of Cardiovascular Surgery Correspondence Address: Ulisses Alexandre Croti https://orcid.org/0000-0002-1127-4782 Hospital da Criança e Maternidade de São José do Rio Preto (FUNFARME) Faculdade de Medicina de São José do Rio Preto (FAMERP) Av. Jamil… read more here.
Keywords: jos rio; rare association; fallot alcapa; rio preto ... See more keywords
Right aortic arch with isolated left subclavian artery: a rare association with coarctation of the left pulmonary artery.
Sign Up to like & getrecommendations! Published in 2018 at "Kardiologia polska"
DOI: 10.5603/kp.2018.0136
Abstract: We present a case report of rare association of right aortic arch with isolated left subclavian artery with coarctation of the left pulmonary artery. read more here.
Keywords: artery; right aortic; aortic arch; rare association ... See more keywords