Radiographic findings in Wiedemann-Rautenstrauch syndrome

Obregón, María Gabriela; Bergami, G; Giannotti, Aldo; Digilio, Maria C.; Virgili, Q.; Guadagni, A M; Pompei, E; Dallapiccola, Bruno

doi:10.1007/bf02013521

Cited by 9 publications

(7 citation statements)

References 6 publications

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“…The present patient (case 2) represents 1 of the 28 WRS patients described so far (Rautenstrauch and Snigula, 1977; Wiedemann, 1979; Devos et al, 1981; Ohashi et al, 1987; Rudin et al, 1988; Hagadorn et al, 1990; Castineyra et al, 1992; Obregon et al, 1992; Bitoun et al, 1995; Hou and Wang, 1995; Arboleda et al, 1997; Pivnick et al, 2000). The mean age of survival for patients with WRS is about 7 months (Pivnick et al, 2000).…”

Section: Discussionmentioning

confidence: 75%

Follow‐up study of Wiedemann‐Rautenstrauch syndrome: Long‐term survival and comparison with Rautenstrauch's patient “G”

Arboleda

2005

Birth Defects Research

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Section: Discussionmentioning

confidence: 75%

Follow‐up study of Wiedemann‐Rautenstrauch syndrome: Long‐term survival and comparison with Rautenstrauch's patient “G”

Arboleda

2005

Birth Defects Research

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“…Rudin et al [1988] noted a large neurocranium, wide cranial sutures, trident configuration of the acetabula, and irregular metaphyses of the long bones in NPS. Obregon et al [1992] provided the detailed description of the skeletal findings in a new NPS patient and reviewed those in eight other NPS cases, demonstrating that similar findings are characteristic of the disorder. The radiological abnormalities common in two of our patients (Cases 1, 2) and the previously reported cases suggest that radiological abnormalities are a manifestation of the syndrome (Tables I, II).…”

Section: Discussionmentioning

confidence: 99%

Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: Report of five new cases and review

et al. 2000

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The neonatal progeroid syndrome (NPS), or Wiedemann-Rautenstrauch, is a rare autosomal recessive disorder comprised of generalized lipoatrophy except for fat pads in the suprabuttock areas, hypotrichosis of the scalp hair, eyebrows, and eyelashes, relative macrocephaly, triangular face, natal teeth, and micrognathia. We report on 5 new patients who demonstrate phenotypic variability and who represent the single largest series of NPS reported to date. Two of the patients are from an African-American kindred, an ethnic occurrence not reported previously. The fact that there are 2 pairs of sibs among the 5 patients further supports that NPS is an autosomal recessive condition. This report also includes a review of the previously reported 16 patients and compares them with the 5 new patients. Abnormalities in endocrine and lipid metabolism were found in 3 of 5 patients. Skeletal findings in 2 of our patients demonstrated some new findings as well as the typical radiological abnormalities previously noted in NPS. It is apparent, based on the 21 cases, that mild to moderate mental retardation is common in NPS. Long term follow-up of patients with NPS should provide more information relative to their ultimate psychomotor development. NPS is usually lethal by 7 months; however, on rare occasions, patients have survived into the teens. Our 3 surviving patients range in age from 16-23 months. Variability in the phenotype of NPS is clear; however, the phenotype remains distinct enough to allow a secure diagnosis.

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“…Radiographic findings like, unossified skull bones, partly unossified atlas, thin ribs, hypoplasia of vertebral bodies, abnormal iliac bones, trident configuration of acetabula, unossified Ischia, irregular end plates of the metaphyses have been described in NPS [2]. The present case had large skull, small facial bones, wide cranial sutures.…”

Section: Discussionmentioning

confidence: 73%

Wiedemann–Rautenstrauch Syndrome: First Indian Case

et al. 2011

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Wiedemann-Rautenstrauch syndrome, also known as neonatal progeroid syndrome (NPS), is an extremely rare genetic disorder characterised by an aged appearance at birth. About thirty cases have been reported in the literature. The authors report first Indian baby with Wiedemann-Rautenstrauch syndrome with the lowest birth weight documented in such a patient, who is still surviving at 24 months. This ethnicity has not been reported previously in literature.

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Radiographic findings in Wiedemann-Rautenstrauch syndrome

Abstract: We describe a girl who presents the features of Wiedemann-Rautenstrauch syndrome. This autosomal recessive condition has characteristic radiographic findings which can be considered manifestations of the syndrome.

Cited by 9 publications

References 6 publications

Follow‐up study of Wiedemann‐Rautenstrauch syndrome: Long‐term survival and comparison with Rautenstrauch's patient “G”

Follow‐up study of Wiedemann‐Rautenstrauch syndrome: Long‐term survival and comparison with Rautenstrauch's patient “G”

Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: Report of five new cases and review

Wiedemann–Rautenstrauch Syndrome: First Indian Case

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