Baller-Gerold Syndrome a Rare Cause of Heart-Hand Syndrome

The follow-up of a man from birth to adulthood, presenting with features both of RAPADILINO and Rothmund-Thomson syndrome (RTS), is described. Molecular studies confirmed the presence of two different mutations, c.2767_2768delTT and c.3061C>T, in the RECQL4 gene. This gene is known to be causative of a spectrum including Baller-Gerold syndrome, RAPADILINO syndrome and RTS. New and rare features such as oral leukoplakia and very prominent hyperkeratotic verrucous papules on both soles are shown. This patient has to date no cancer history despite bearing a truncating mutation at the age of 21 years, which is also unusual.

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Long-Term Follow-Up and Molecular Characterization of a Patient with a RECQL4 Mutation Spectrum Disorder

Fradin

Merklen-Djafri²,

Perrigouard³

et al. 2013

Dermatology

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Baller-Gerold Syndrome a Rare Cause of Heart-Hand Syndrome

Abstract: Heart hand syndromes are characterized by radial abnormalities and associated defects in the heart. We here describe an extremely rare heart hand syndrome known as Baller-Gerold syndrome.

Cited by 1 publication

References 7 publications

Long-Term Follow-Up and Molecular Characterization of a Patient with a RECQL4 Mutation Spectrum Disorder

Long-Term Follow-Up and Molecular Characterization of a Patient with a RECQL4 Mutation Spectrum Disorder

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