Results 131 to 140 of about 350,440 (325)
, 2010 VACTERL association is a useful acronym for a condition characterised by the sporadic, non-random association of specific birth defects of multiple organ systems.We present one such case which had congenital abnormalities of renal,skeletal and cardiac ...
Rabah, SM, Salati, SA
core +1 more source
DIO3 protects against thyrotoxicosis-derived cranio-encephalic and cardiac congenital abnormalities. [PDF]
JCI Insight, 2022 Martinez ME +5 more
europepmc +1 more source
Ocular abnormalities in congenital Zika syndrome: a case report, and review of the literature [PDF]
, 2018 Jade Gieseke Guevara, Swati Agarwal
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss +8 more
wiley +1 more source
1027 CONGENITAL CORONARY ARTERY ABNORMALITIES: THE DIAGNOSTIC AND PROGNOSTIC VALUE OF CARDIAC COMPUTED TOMOGRAPHY [PDF]
, 2022 Davide Marchetti +10 more
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit +16 more
wiley +1 more source
Beyond the Syndrome: Extensive Congenital Abnormalities in an Infant With Trisomy 21. [PDF]
Clin Pathol, 2022 Ward JD +5 more
europepmc +1 more source
OP19.08: Exposure to traumatic medical litigation, patient's complaints and post‐traumatic stress symptoms for misdiagnosed fetal congenital abnormalities [PDF]
, 2016 Elif Gül Yapar Eyı
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani +17 more
wiley +1 more source
Congenital Malformation Prevalence in Cluj District between 2003-2007 [PDF]
Applied Medical Informatics, 2009 Introduction: Congenital anomalies represent a significant cause of premature birth, of child morbidity and mortality. From 200000 new born per year, over 10000 presented malformations. Epidemiologic studies have shown that the incidence of malformations
Ştefan I. ŢIGAN +3 more
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