REVIEW
Add like
Add dislike
Add to saved papers

New autosomal recessive multiple congenital abnormalities/mental retardation syndrome with craniofacial dysmorphism absent corpus callosum, iris colobomas and connective tissue dysplasia.

We report three sibs, one boy and two girls, with a similar MCA/MR syndrome, where parents were first cousins. They had macrodolichocephaly, an elongated face, apparently low-set simple ears, hypertelorism, bilateral "key-hole' colobomata of the iris, retina and choroid, a beaked nose, micrognathia and dental anomalies. Brain CT scan showed dilated ventricles and an absent corpus callosum. Skeletal anomalies included brachydactyly of the hands and feet, genua vara and flat feet. Two sibs had left ventricular enlargement, and aortic dilatation and regurgitation. Review of the literature from the London Dysmorphology Data Base (LDDB) and OMIM suggests that this family represents a new syndrome.

Full text links

For the best experience, use the Read mobile app

Group 7SearchHeart failure treatmentPapersTopicsCollectionsEffects of Sodium-Glucose Cotransporter 2 Inhibitors for the Treatment of Patients With Heart Failure Importance: Only 1 class of glucose-lowering agents-sodium-glucose cotransporter 2 (SGLT2) inhibitors-has been reported to decrease the risk of cardiovascular events primarily by reducingSeptember 1, 2017: JAMA CardiologyAssociations of albuminuria in patients with chronic heart failure: findings in the ALiskiren Observation of heart Failure Treatment study.CONCLUSIONS: Increased UACR is common in patients with heart failure, including non-diabetics. Urinary albumin creatininineJul, 2011: European Journal of Heart FailureRandomized Controlled TrialEffects of Liraglutide on Clinical Stability Among Patients With Advanced Heart Failure and Reduced Ejection Fraction: A Randomized Clinical Trial.Review

Get seemless 1-tap access through your institution/university

For the best experience, use the Read mobile app

Read by QxMD is copyright © 2021 QxMD Software Inc. All rights reserved. By using this service, you agree to our terms of use and privacy policy.

Get seemless 1-tap access through your institution/university

For the best experience, use the Read mobile app