Increased nuchal translucency and other ultrasound findings in a case of simpson-golabi-behmel syndrome.

Objectives: Fetal imaging, in particular nuchal translucency, is playing an increasingly important role in diagnosing genetic syndromes. We report imaging findings of a male fetus with Simpson-Golabi-Behmel (SGB) syndrome.

Methods And Results: The SGB case was noted to have increased nuchal translucency on integrated prenatal screening, in conjunction with elevated maternal serum alpha fetal protein and body wall edema.

Severe hemihypotrophy in a female infant with mosaic Turner syndrome: a variant of Russell-Silver syndrome?

Russell-Silver syndrome is a genetically heterogeneous condition. For most affected individuals, it represents a phenotype rather than a specific disorder. Although chromosomal anomalies, imprinting disorder, maternal uniparental disomy 7 as well as familial autosomal dominant and X-linked forms have been reported, the diagnosis remains determined on clinical grounds.