The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome

A female phenotype with coffin-lowry syndrome

Coffin-Lowry syndrome (CLS, MIM # 303600) is a rare X-linked semi-dominant mental retardation disorder (XLMR). It was first reported independently by Coffin et al. [1] and Lowry et al. [2] and recognized as a novel syndrome of neurocognitive impairment, growth retardation, facial dysmorphism, puffy proximal digits, tapering digits and progressive skeletal changes by Temtamy et al. [3] in 1975. ...

The expanding cardiovascular phenotype of Marfan syndrome.

In this issue of the journal, Kiotsekoglou et al. report on right ventricular systolic dysfunction in patients with Marfan syndrome (MFS). Over the past years, several studies have demonstrated mild, though significant, left ventricular systolic and diastolic dysfunction in patients with MFS. This is the first study indicating impaired right ventricular function. Marfan syndrome is an autosomal...

The Coffin-Lowry syndrome.

Short syndrome-an expanding phenotype.

The phenotypic description of SHORT syndrome (OMIM- 269880) is expanding since its initial description in 1975. There have been 26 case reports till date but the genetic locus of this syndrome is elusive. Involvement of PITX2 gene initially envisaged is probably is not the only gene involved but has an important role to play in ocular development. Our case did not demonstrate mutation in PITX2 ...

Marshall-Smith syndrome: the expanding phenotype.

We report a child of 3 years 9 months with the Marshall-Smith syndrome (MSS), characterised by the typical facial features, developmental delay, and advanced bone age. After the diagnosis was made at 5 months of age, careful observation for respiratory complications and failure to thrive was initiated. By 3 1/2 years of age, although our patient had no life threatening respiratory complications...