Results 111 to 120 of about 2,263,137 (364)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff +8 more
wiley +1 more source
Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Poland Anomaly is a rare congenital disorder typically characterized by hypoplasia or agenesis of pectoral muscle with or without ipsilateral limb hypoplasia. The association of central nervous system malformation with Poland Anomaly has been rarely reported and includes craniofacial dysplasia, microcephaly, and Dandy‐Walker malformation ...
Alessandra Greta Grassi +5 more
wiley +1 more source
Femoroacetabular Impingement (FAI) Syndrome : the medical imaging perspective [PDF]
, 2014 Introduction: Sports persons, physicians, orthopods and radiologists have become increasingly aware of the extra stress that is imposed on the hip joints with excessive activity particularly when superadded weight bearing and asymmetrical variations from
Zammit, Anthony
core
Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim +2 more
wiley +1 more source
TRANSVAGINAL ECHOCARDIOGRAPHY FOR THE PRENATAL DETECTION OF THE CONGENITAL HEART DISEASES
Педиатрическая фармакология, 2009 The ultrasonic study in the early pregnancy may successfully be used to perform the early prenatal detection of the congenital heart diseases in fetuses with the non cardiac abnormalities and sonographic markers of the chromosome pathology.Key words ...
E.A. Shevchenko
doaj +2 more sources
Laparoscopic ureteropyeloanastomosis in the treatment of duplex system
International Brazilian Journal of Urology, 2012 PURPOSE: Duplex system is one of the most common anomalies of upper urinary tract. Anatomical and clinical presentation determine its treatment. Usually, the upper moiety has a poor function and requires resection, but when it is not significantly ...
Marcelo Hisano +6 more
doaj +1 more source
Congenital Abnormalities of the Uterus and Pregnancy [PDF]
, 1956 John A. Holmes
openalex +1 more source
Brain Differences in the Prefrontal Cortex, Amygdala, and Hippocampus in Youth with Congenital Adrenal Hyperplasia [PDF]
, 2020 Context: Classical Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency results in hormone imbalances present both prenatally and postnatally that may impact the developing brain.
Azad, Anisa +5 more
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Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes +4 more
wiley +1 more source
A Case Showing Multiple Congenital Abnormalities [PDF]
, 1933 A. J. Ballantyne
openalex +1 more source