The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital
malformation syndromes. The recent discovery of the biochemical cause of SLOS and the …

The Hedgehog signaling pathway is essential for many aspects of normal embryonic
development, including formation and patterning of the neural tube. Absence of the sonic …

Orofaciodigital syndromes (OFDSs) consist of a group of heterogeneous disorders
characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic …

The oral–facial–digital syndromes (OFDS) result from the pleiotropic effect of a
morphogenetic impairment affecting almost invariably the mouth, face and digits. Other …

Ciliary chondrodysplasias represent a heterogenous group of rare, nearly exclusively
autosomal recessively inherited developmental conditions. While the skeletal phenotype …

The first oral‐facial‐digital syndrome was described in 1941 by Mohr, followed by a report by
Papillon‐Léage and Psaume [Papillon‐Léage and Psaume (1954); Rev Stomatol (Paris) 55 …

BACKGROUND: Diabetes is the most common endocrinologic complication during
pregnancy, and poor control can lead to a variety of congenital anomalies in the fetus …

Hydrolethalus syndrome is a lethal malformation syndrome with a severe brain
malformation, most often hydrocephaly and absent midline structures. Other frequent …

Individuals with holoprosencephaly (HPE) and limb reduction defects have been ascribed
historically to a variety of syndromes with overlapping phenotypic features. As such, these …

We report on a family in which two sibs had apparently absent ribs and severe micrognathia
on prenatal ultrasonography. The pregnancies were terminated at 19 and 12 weeks of …