A patient with Rothmund-Thomson syndrome and all features of RAPADILINO

Arch Dermatol. 2005 May;141(5):617-20. doi: 10.1001/archderm.141.5.617.


Background: Mutations of the human helicase gene RECQL4 have been identified in a subset of patients with Rothmund-Thomson syndrome (RTS) and in children with the diagnosis of RAPADILINO syndrome (RAdial hypoplasia/aplasia, PAtellar hypoplasia/aplasia, cleft or highly arched PAlate, DIarrhea and DIslocated joints, LIttle size [>2 SDs below the mean in height] and LImb malformation, and slender NOse and NOrmal intelligence). While many features of the 2 genetic disorders overlap, poikiloderma--a hallmark of RTS--has been described as generally absent in RAPADILINO syndrome.

Observations: We report herein a patient with RTS who carries a truncating mutation and a newly identified missense mutation of RECQL4. The proband uniquely developed all criteria of RAPADILINO in addition to his prominent skin findings.

Conclusions: Patients with RTS may possess all features of RAPADILINO. Consequently, a genetic approach to RTS and RAPADILINO could be beneficial. This approach may provide a better understanding of the wide variety of related phenotypic findings and improve prognostics.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adenosine Triphosphatases / genetics
  • Amino Acid Substitution
  • Arginine
  • Bone and Bones / abnormalities*
  • Child
  • Cytosine
  • DNA Helicases / genetics
  • Diarrhea / complications*
  • Glutamine
  • Growth Disorders / complications*
  • Guanine
  • Humans
  • Joint Dislocations / complications*
  • Limb Deformities, Congenital / complications
  • Male
  • Mutation
  • Mutation, Missense
  • Palate / abnormalities*
  • Patella / abnormalities
  • Radius / abnormalities
  • RecQ Helicases
  • Rothmund-Thomson Syndrome / complications*
  • Syndrome
  • Thymine


  • Glutamine
  • Guanine
  • Cytosine
  • Arginine
  • Adenosine Triphosphatases
  • RECQL4 protein, human
  • DNA Helicases
  • RecQ Helicases
  • Thymine