7 rezultatus
There are multiple genetic disorders with known or unknown etiology grouped under obesity syndromes. Inspite of having multisystem involvement and often having a characteristic presentation, the understanding of the genetic causes in the majority of these syndromes is still lacking. The common
BACKGROUND
Alobar holoprosencephaly is a rare and severe brain malformation due to early arrest in brain cleavage and rotation.
METHODS
We report a congenital anomalous fetus with alobar holoprosencephaly, prenatally diagnosed by two-dimensional (2D) sonography at the 40 weeks of gestation. The
OBJECTIVE
Coexistence of Klinefelter syndrome and holoprosencephaly (HPE) is rare. We report alobar HPE, cebocephaly, and micropenis in a Klinefelter fetus of a mother with type 2 diabetes mellitus with obesity and poor metabolic control.
METHODS
A 38-year-old woman was referred for therapy of type
BACKGROUND
Maternal obesity and diabetes are both associated with increased risk of congenital central nervous system (CNS) malformations in the offspring and may share a common underlying mechanism. Our objective was to evaluate whether gestational diabetes influenced the association of
Obesity is common in children with congenital midline defects of the brain, due to various endocrine reasons: hypothyroidism, growth hormone deficiency and inappropriate cortisol replacement. However, obesity occurs more often in the absence of an endocrinopathy. We reviewed 31 patients (10 females,
Non-alcoholic fatty liver disease (NAFLD) is the most common form of liver disease. Activation of hedgehog (Hh) signaling has been implicated in the progression of NAFLD and proposed as a therapeutic target; however, the effects of Hh signaling inhibition have not been studied in humans with
We report 3 patients with a 7q terminal deletion. The first, a 7 weeks old female, with a de novo 7q36-->qter deletion, was microcephalic and had a partial hypoplasia of the corpus callosum on the MRI-scan of the brain. The second, a 3 months old male, showed microcephaly, disproportionate growth