Background In 1998, folic acid fortification of a large variety of cereal products became
mandatory in Canada, a country where the prevalence of neural-tube defects was historically …

We have determined the molecular basis for Usher syndrome type 1F (USH1F) in two families
segregating for this type of syndromic deafness. By fluorescence in situ hybridization, we …

Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have been
reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental …

The predominantly autosomal dominant disorder, oculodentodigital dysplasia (ODDD) has
high penetrance with intra‐ and interfamilial phenotypic variability. Abnormalities observed in …

We present a series of seven patients who were previously diagnosed with Proteus syndrome,
but who do not meet published diagnostic criteria for this disorder and whose natural …

Our objective was to evaluate the frequency and type of malformations associated with
gastroschisis in a large pool of international data, to identify malformation patterns, and to …

Environmental teratogenic factors (eg alcohol) are preventable. We focus our analysis on
human teratogenic drugs which are not used frequently during pregnancy. The previous …

BACKGROUND: The prevalence of esophageal atresia (EA) has been shown to vary across
different geographical settings. Investigation of geographical differences may provide an …

Spinal muscular atrophy (SMA) is a heterogeneous group of neuromuscular disorders caused
by degeneration of lower motor neurons. Although functional loss of SMN1 is associated …

Sirenomelia is a very rare limb anomaly in which the normally paired lower limbs are replaced
by a single midline limb. This study describes the prevalence, associated malformations, …