Results 221 to 230 of about 289,829 (351)

Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?

open access: yesAmerican 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

Basal Metabolic Requirements, Biomarkers of Cardiometabolic Health, and Anthropometric Measures of Obesity in Women and Men With Restricted Growth Conditions

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Population‐specific thresholds have not been defined for the levels of adiposity and systemic biomarkers that predict chronic health risks in people with restricted growth conditions. Here, anthropometric measures of adiposity, basal metabolic requirements, and fasted blood samples were obtained from adults with restricted growth (age 41 ± 14 ...
Lucy H. Merrell   +7 more
wiley   +1 more source

A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips   +8 more
wiley   +1 more source

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