RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations

Kääriäinen, Helena; Ryöppy, Soini; Norio, Reijo

doi:10.1002/ajmg.1320330312

Cited by 54 publications

(37 citation statements)

References 7 publications

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“…The follow-up data presented support the contention that besides the congenital malformations and acral dysostoses, the clinical course of this mesomelic dysplasia is slowly progressive at least until adulthood is reached, a feature that contrasts with most mesomelic syndromes recently delineated [Kaariainen et al, 1989;Kantaputra et al, 1992;Coelho et al, 1998;Steiner et al, 2000]. In Patient 1 few if any additional osteochondrodystrophic changes have occurred between the ages of 43 and 55 years.…”

Section: Discussionsupporting

confidence: 65%

Mesomelic dysplasia with acral synostoses Verloes–David–Pfeiffer type: Follow‐up study documents progressive clinical course

Isidor

Hamel

Plasschaert

et al. 2009

American J of Med Genetics Pt A

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Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal-dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, hypertelorism, palatal abnormality, CHD, and ureteral anomalies. Since the original reports in 1995, two other patients have been described with this syndrome, one of them the patient reported in 1998 by Day-Salvatore. In this article, we report on the follow-up of some of the original cases and review the literature. We confirm that the Verloes-David-Pfeiffer syndrome (VDPS) is a progressive skeletal disorder that despite repeated corrective surgical intervention leads to severe limb deformities. No mutations were detected in the FLNB gene. To date, the cause and the pathogenesis of VDPS remain unknown. The latter is characterized in this study as a syndromic type of skeletal dysplasia because besides congenital malformations and multiple acromelic synostoses arising prenatally, VDPS manifests in postnatal life as a severe osteochondrodysplasia.

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Section: Discussionsupporting

confidence: 65%

Mesomelic dysplasia with acral synostoses Verloes–David–Pfeiffer type: Follow‐up study documents progressive clinical course

Isidor

Hamel

Plasschaert

et al. 2009

American J of Med Genetics Pt A

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“…The RAPADILINO syndrome was suggested, which is an eponym based on the occurrence of specific features in three sporadic cases and a pair of sibs, namely: RAdial aplasia/hypoplasia-high PAlate-PAtellar aplasia-DIarrhoeaLIttle size-LImb anomaly-NOrmal intelligence-long slender NOse [6]. Symptoms such as radial ray defects and short stature are also found in RTSII and BGS patients and represent the most common features found in the 'RECQL4 syndromes' [11].…”

Section: Discussionmentioning

confidence: 96%

Atypical Rothmund-Thomson syndrome in a patient with compound Heterozygous Mutations in RECQL4 Gene and phenotypic features in RECQL4 syndromes

et al. 2007

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We describe the natural history of the RTSII phenotype in a 7-year-old boy who developed intrauterine and postnatal growth retardation, failure to thrive and persisting diarrhoea. The growth hormone stimulation test identified an isolated growth hormone deficiency. Since infancy, the patient manifested skin lesions characterized by a very mild poikilodermic-like appearance on the cheeks only, widespread café-au-lait spots and the absence of eyebrows and eyelashes. There was no cataract. Orthopaedic and radiologic work-up identified the absence of thumb anomaly and radial head luxation and patellar hypoplasia. Neurologic, cognitive milestones and intelligence were normal. The cytogenetic work-up did not show any anomaly. Based on this clinical presentation, we carried out a sequencing analysis of the RECQL4 gene, which is responsible for Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes and found a splice site mutation (IVS10-1G>A) and a nucleotide substitution in exon 12 (L638P). The mother was identified as a carrier for the substitution in exon 12 and the father for the splice site mutation, respectively. An analysis of the transcripts focused on the RECQL4 helicase domain: in the proband only those generated from the maternal L638 allele were present. This case report emphasizes the clinical overlap between RAPADILINO and Rothmund-Thomson syndromes within a continuum phenotypic spectrum. The distinctive set of clinical signs displayed by the patient may be accounted for by his unique combination of two different RECQL4 mutations. The molecular findings provide information that enhances our comprehension of genotype-phenotype correlations in RECQL4 diseases, enables a more precise genetic counseling to the parents and facilitates a more appropriate long-term follow-up to the affected child.

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“…RAPADILINO syndrome was first described by Kääriäinen et al in 1989. 17 These patients have overlapping features with RTS patients, namely intrauterine and postnatal growth retardation and bone malformations, especially radial defects, such as hypoplasia and aplasia of thumbs and radius. However, poikilodermatous rash has never been observed in RAPADILINO patients.…”

Section: Introductionmentioning

confidence: 99%

The mutation spectrum in RECQL4 diseases

et al. 2008

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Mutations in the RECQL4 gene can lead to three clinical phenotypes with overlapping features. All these syndromes, Rothmund-Thomson (RTS), RAPADILINO and Baller-Gerold (BGS), are characterized by growth retardation and radial defects, but RAPADILINO syndrome lacks the main dermal manifestation, poikiloderma that is a hallmark feature in both RTS and BGS. It has been previously shown that RTS patients with RECQL4 mutations are at increased risk of osteosarcoma, but the precise incidence of cancer in RAPADILINO and BGS has not been determined. Here, we report that RAPADILINO patients identified as carriers of the c.1390 þ 2delT mutation (p.Ala420_Ala463del) are at increased risk to develop lymphoma or osteosarcoma (6 out of 15 patients). We also summarize all the published RECQL4 mutations and their associated cancer cases and provide an update of 14 novel RECQL4 mutations with accompanying clinical data.

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RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations

Cited by 54 publications

References 7 publications

Mesomelic dysplasia with acral synostoses Verloes–David–Pfeiffer type: Follow‐up study documents progressive clinical course

Mesomelic dysplasia with acral synostoses Verloes–David–Pfeiffer type: Follow‐up study documents progressive clinical course

Atypical Rothmund-Thomson syndrome in a patient with compound Heterozygous Mutations in RECQL4 Gene and phenotypic features in RECQL4 syndromes

The mutation spectrum in RECQL4 diseases

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