Timely recognition of severe, congenital hypopituitarism is challenging. Short stature does
not force consideration of the diagnosis, because birth weight and length are typically …

Discovery of nearly 200 genes implicated in epilepsy and insights into the molecular and
cellular pathways involved are transforming our knowledge of the causes, classifications …

Background Congenital anomalies are the leading cause of perinatal, neonatal and infant
mortality in developed countries. Large long-term follow-up studies investigating survival …

Here, we applied targeted capture to examine 153 genes representative of all the major
vertebrate developmental pathways among 333 probands to rank their relative significance …

Holoprosencephaly is the most common malformation of forebrain development and
includes a wide spectrum of severity. The objective of this retrospective study was to …

Abstract Fetal Magnetic Resonance Imaging (MRI) is increasingly used in prenatal
evaluations. Objective Identify common brain malformations on fetal MRI and evaluate …

Introduction Congenital and developmental intracranial cysts represent a large
heterogenous group with varied presentations and etiologies. They can range from normal …

Holoprosencephaly (HPE) is one of the most common malformations in embryonic
development. It represents a continuum spectrum that involves the midline cleavage of …

Holoprosencephaly (HPE) is a complex forebrain congenital malformation with widely
variable outcomes. It represents a disorder of ventral induction, which begins in the fifth …

Aims The objective of this study was to determine how many pregnant Japanese women
with diabetes mellitus (DM)/gestational diabetes mellitus (GDM) experience perinatal …