Two sibs with Wiedemann-Rautenstrauch syndrome: possibilities of prenatal diagnosis by ultrasound.

Castiñeyra, G; Panal, Marcelo; Presas, H Lopez; Goldschmidt, Ernst; Sánchez, Javier

doi:10.1136/jmg.29.6.434

Cited by 19 publications

(16 citation statements)

References 7 publications

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“…Thirty-two patients with NPS have been described [Arboleda et al, 2007;Rautenstrauch et al, 1994;Castineyra et al, 1992;Petty et al, 1990], although a few of the reported cases had a strikingly different phenotype. Considerable phenotypic heterogeneity is obviously present in this syndrome.…”

Section: Introductionmentioning

confidence: 94%

Marfan syndrome with neonatal progeroid syndrome‐like lipodystrophy associated with a novel frameshift mutation at the 3′ terminus of the FBN1‐gene

Graul‐Neumann

Kienitz

Robinson

et al. 2010

American J of Med Genetics Pt A

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We report on a 25-year-old woman with pronounced generalized lipodystrophy and a progeroid aspect since birth, who also had Marfan syndrome (MFS; fulfilling the Ghent criteria) with mild skeletal features, dilated aortic bulb, dural ectasia, bilateral subluxation of the lens, and severe myopia in addition to the severe generalized lipodystrophy. She lacked insulin resistance, hypertriglyceridemia, hepatic steatosis, and diabetes. Mutation analysis in the gene encoding fibrillin 1 (FBN1) revealed a novel de novo heterozygous deletion, c.8155_8156del2 in exon 64. The severe generalized lipodystrophy in this patient with progeroid features has not previously been described in other patients with MFS and FBN1 mutations. We did not find a mutation in genes known to be associated with congenital lipodystrophy (APGAT2, BSCL2, CAV1, PTRF-CAVIN, PPARG, LMNB2) or with Hutchinson-Gilford progeria (ZMPSTE24, LMNA/C). Other progeria syndromes were considered unlikely because premature greying, hypogonadism, and scleroderma-like skin disease were not present. Our patient shows striking similarity to two patients who have been published in this journal by O'Neill et al. [O'Neill et al. (2007); Am J Med Genet Part A 143A:1421-1430] with the diagnosis of neonatal progeroid syndrome (NPS). This condition also known as Wiedemann-Rautenstrauch syndrome is a rare disorder characterized by accelerated aging and lipodystrophy from birth, poor postnatal weight gain, and characteristic facial features. The course is usually progressive with early lethality. However this entity seems heterogeneous. We suggest that our patient and the two similar cases described before represent a new entity, a subgroup of MFS with overlapping features to NPS syndrome.

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Section: Introductionmentioning

confidence: 94%

Marfan syndrome with neonatal progeroid syndrome‐like lipodystrophy associated with a novel frameshift mutation at the 3′ terminus of the FBN1‐gene

Graul‐Neumann

Kienitz

Robinson

et al. 2010

American J of Med Genetics Pt A

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“…This is associated with a spectrum of clinical features, including delayed psychomotor development and physical growth, alopecia, macrocephaly and lipoatrophy (Arboleda et al 1997;Bitoun et al 1995;Castineyra et al 1992;Devos et al 1981;Martin et al 1984;Pivnick et al 2000;Toriello 1990). No genomic DNA mutations have yet been reported in WRS, but because lipodystrophy is a central feature, genes that cause lipodystrophy can be considered as candidates.…”

Section: Introductionmentioning

confidence: 99%

LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090)

2003

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Hutchinson-Gilford progeria syndrome (HGPS; MIM 176670) is an extremely rare disease that is characterized by accelerated aging and early death, frequently from coronary artery disease. WiedemannRautenstrauch syndrome (WRS; MIM 264090) is another extremely rare disease that is characterized by progeroid features from birth with multiple somatic anomalies and paucity of subcutaneous fat. Because mutations in LMNA, encoding nuclear lamin A/C, cause other lipodystrophy syndromes, we sequenced LMNA (MIM 150330) from the genomic DNAs of seven unrelated HGPS probands and two unrelated WRS probands. We found four novel LMNA coding sequence variants among the HGPS probands, namely R471C, R527C, G608S and c.2036C>T. All seven HGPS probands had at least one LMNA variant, which were found in none of the genomes of 100 normal subjects (P<4·10 )11 ). In contrast, neither of the WRS proband genomes had any LMNA sequence abnormality. The strong association of rare LMNA coding sequence mutations with HGPS implicates this syndrome as a laminopathy, while WRS is most probably due to mutations in another gene.

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“…2,3,6,[8][9][10][11] The only paper describing prenatal findings based them on ultrasound biometry; however, these are not specific to the syndrome. 12 There are no other medical case reports available that describe prenatal ultrasound images about WRS structural characteristics. Our case report allows prenatal and postnatal images correlations, and improves craniofacial anomalies diagnosis approach.…”

Section: Discussionmentioning

confidence: 98%

Wiedemann–Rautenstrauch syndrome prenatal diagnosis

et al. 2014

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Two sibs with Wiedemann-Rautenstrauch syndrome: possibilities of prenatal diagnosis by ultrasound.

Cited by 19 publications

References 7 publications

Marfan syndrome with neonatal progeroid syndrome‐like lipodystrophy associated with a novel frameshift mutation at the 3′ terminus of the FBN1‐gene

Marfan syndrome with neonatal progeroid syndrome‐like lipodystrophy associated with a novel frameshift mutation at the 3′ terminus of the FBN1‐gene

LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090)

Wiedemann–Rautenstrauch syndrome prenatal diagnosis

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