BACKGROUND Although thyroid disorders are present in approximately 3% of pregnant women, little is known about the association between maternal thyroid disease and birth defects. METHODS We assessed the association between maternal thyroid disease, thyroid medication use, and 38 types of birth defects among 14,067 cases and 5875 controls in the National Birth Defects Prevention Study, a multi...

Basal cell nevus syndrome Congenital hydrocephaly Abstract A case of basal cell nevus syndrome or Gorlin’s syndrome is reported in a new-born. The skin condition is associated with congenital hydrocephaly and skeletal malformations. To our knowledge, this is the first case of basal cell nevus syndrome with skin tumors present at birth and localized on the fingers K. Meyvisch, Department of Derm...

Meckel-Gruber syndrome (MGS) is a rare and lethal ciliopathic disorder, with the incidence ranging between 1 in 13 000-400 000 live births. MGS is characterized by multisystem developmental malformations with the classical features of renal cystic dysplasia, occipital encephalocele and post-axial polydactyly. Except for occipital encephalocele, the CNS abnormalities associated with MGS that are...

M embrane fusion is required to deliver specific cargo molecules to distinct intracellular compartments, thereby maintaining the functional and structural organization of eukaryotic cells, as well as intercellular communication, which occurs in precisely timed spatial patterns at the plasma membrane. During embryogenesis, exocytosis is harnessed to induce differentiation and morphogenesis, as d...

There is little doubt that, in the adult, specific brain lesions cause specific language deficits. Yet, brain localizations of linguistic functions are made problematic by several reported cases of normal language in spite of major brain anomalies, mostly, but not exclusively, occurring early in life. The signal cases are hydrocephaly, spina bifida and hemispherectomy. These cases are discussed...

Ependymal cells are part of the neurogenic niche in the adult subventricular zone of the lateral ventricles, where they regulate neurogenesis and neuroblast migration. Ependymal cells are generated from radial glia cells during embryonic brain development and acquire their final characteristics postnatally. The homeobox gene Six3 is expressed in ependymal cells during the formation of the later...