Results 61 to 70 of about 1,327,945 (260)
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena +13 more
wiley +1 more source
The Association of Renal Agenesis and Ipsilateral Seminal Vesicle Cyst: Zinner Syndrome Case Report
Case Reports in Urology, 2019 Introduction Zinner syndrome is a rare congenital malformation characterized by the association of an ipsilateral renal agenesis, ipsilateral seminal vesicle cyst, and ipsilateral ejaculatory duct obstruction. This case is one of the first to be reported
Mishal AlArifi +2 more
semanticscholar +1 more source
Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll +2 more
wiley +1 more source
Pediatrics and Neonatology, 2012 Herlyn-Werner-Wunderlich (HWW) syndrome is a rare variant of Müllerian duct anomalies consisting of uterine didelphys, obstructed hemivagina, and ipsilateral renal agenesis.
Tsung-Hsin Wu +6 more
doaj +1 more source
A case of hydrometrocolpos with left renal agenesis [PDF]
, 1985 Herein we report a case of hydrometrocolpos with left renal agenesis of a four-month-old girl. The hydrometrocolpos due to a transverse septum of the vagina and left renal agenesis were confirmed by laparotomy. The transverse septum was incised and cured
八竹, 直 +5 more
core
Paediatric development of radiopharmaceutical imaging agents and radioligand therapeutics
British Journal of Clinical Pharmacology, EarlyView.Abstract This review focuses on the development of radiopharmaceutical imaging agents and radioligand therapeutics for paediatric use. Nuclear medicine plays an important role in the diagnosis and treatment of various childhood conditions, including cancers, infections and brain disorders.
Justin L. Hay +5 more
wiley +1 more source
Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester [PDF]
, 2015 Branchio-oto-renal syndrome combines branchial arch defects, hearing impairment and renal malformations or hypoplasia. Due to the high phenotypic variability, prenatal diagnosis has a limited prognostic value in mutation-positive cases.
Bertucci, Emma +5 more
core +1 more source
British Journal of Clinical Pharmacology, EarlyView.Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin +7 more
wiley +1 more source
Preferential associated anomalies in 818 cases of microtia in South america [PDF]
, 2013 The etiology of microtia remains unknown in most cases. The identification of patterns of associated anomalies (i.e., other anomalies that occur with a given congenital anomaly in a higher than expected frequency), is a methodology that has been used for
Castilla, Eduardo Enrique +5 more
core +3 more sources
BMJ Case Reports, 2019 Congenital unilateral renal agenesis is a relatively frequent condition at birth diagnosed mostly incidentally. Despite the excellent prognosis, unilateral renal agenesis is associated with an increased risk of other structural abnormalities, including ...
Filipa Briosa +3 more
semanticscholar +1 more source