Coffin-Lowry phenotype in a patient with a complex chromosome rearrangement

Coffin-Lowry phenotype in a patient with a complex chromosome rearrangement.

The eponym Coffin-Lowry syndrome has been used by clinical geneticists for over a quarter of a century now, since first proposed by Temtamy et al in 1975. The syndrome refers to a recognisable clinical condition, characterised by mental retardation, characteristic facial appearance, and skeletal abnormalities. Most geneticists would consider that the condition represents a fairly good example o...

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 Coffin-Lowry syndrome.

Coffin-Lowry Syndrome

Disease characteristics. Coffin-Lowry syndrome (CLS) is characterized by severe to profound mental retardation in males. Intellect ranges from normal to profoundly retarded in heterozygous females. The facial appearance is characteristic in the affected, older male child or adult. The hands are short, soft, and fleshy, often with remarkably hyperextensible fingers that taper from wide (proximal...

Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome.

Coffin-Lowry syndrome (CLS) is a rare neurodevelopmental condition caused by heterogeneous mutations in the RPS6KA3 gene on the X chromosome, leading to severe intellectual disability and dysmorphism in men, while women are carriers and only weakly affected. CLS is well known for stimulus-induced drop episodes; however, epilepsy is not commonly reported in this condition. We report on a CLS pat...