Results 81 to 90 of about 117,358 (311)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc +7 more
wiley +1 more source
Bilateral microform cleft lip [PDF]
, 2006 Microform cleft lip (MCL), also called congenital healed cleft lip or cleft lip "frustré", is a rare congenital anomaly. MCL has been described as having the characteristic appearance of a typical cleft lip which has been corrected in utero. We present a
Attard Montalto, Simon +2 more
core
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
Effectiveness of level two anomaly ultrasound scan for detection of congenital anomalies - an observational retrospective study [PDF]
New Indian Journal of OBGYNObjectives: This study was done to find the effectiveness of level two anomaly scan in detection of congenital anomalies and also to find the maternal and neonatal factors associated with congenital anomalies.
Alka S Gupta +2 more
doaj +1 more source
A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco +6 more
wiley +1 more source
Navigating Infant Death from Life-Limiting Congenital Anomaly: A Classic Grounded Theory Study
, 2018 The purpose of this classic grounded theory study was to explore how parents experience the expected death of an infant from a life-limiting congenital anomaly. These anomalies are the leading cause of death of infants in the United States.
Susan Bush Welch, PhD, RN
core
One and a half ventricle repair: clinical and animal study [PDF]
, 2013 SUMMARY Since the first description of the so called “one and a half ventricle repair”, published by Billingsly et al. in 1989 1, this type of correction has been applied to several complex congenital cardiac anomalies.
Bhattarai, Anil
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Iranian Journal of Public Health, 2018 Background: The inadequate reporting of cross-sectional studies, as in the case of the prevalence of Congenital Anomaly, could cause challenges in the synthesis of new evidence and make possible mistakes in the creation of public policies. This study was
Morvarid IRANI +4 more
doaj
Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston +6 more
wiley +1 more source
Gastroenterology Research and Practice, 2010 Double gallbladder is a rare congenital biliary anomaly, but an accessory gallbladder arising from the left hepatic duct is a more remarkably rare congenital anomaly.
Masahiro Kawanishi +8 more
doaj +1 more source