Short rib‐dysplasia group (with/without polydactyly): Report of a patient suggesting the existence of a continuous spectrum

Franceschini, P; Guala, Andrea; Vardeu, M. P.; Signorile, F.; Franceschini, D.; Bolgiani, M. P.

doi:10.1002/ajmg.1320590316

Cited by 35 publications

(26 citation statements)

References 28 publications

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“…Many manifestations of OFDS VI also overlap with other OFDS and other midline malformation complexes, including OFDS I (Mohr syndrome) [Camera et al, 1994], Pallister Hall syndrome [Bankier et al, 1994;Muenke et al, 1991], hydrolethalus syndrome [Muenke et al, 1991] and Opitz trigonocephaly (or C) syndrome [Cleper et al, 1993]. Transitional cases similar to those with short-rib polydactyly syndromes have also been reported [Franceschini et al, 1995], which have led some authors to propose a broader categorization of all of these syndromes under the rubic ''oral-facial-skeletal (OFS) syndromes'' [Neri et al, 1995].…”

Section: Discussionmentioning

confidence: 99%

Neuropathologic findings in a case of OFDS type VI (V�radi syndrome)

et al. 1998

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Oral-facial-digital syndrome type VI (OFDS VI) or Váradi syndrome is a rare autosomal-recessive disorder distinguished from other oral-facial-digital syndromes by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities. Histopathologic characterization of the cerebellar abnormalities has not been described previously. We describe the neuropathologic findings in a stillborn, 21-week estimated gestational age (EGA) male fetus diagnosed antenatally with signs of OFDS VI. Autopsy findings included: facial abnormalities, postaxial central polydactyly of the right hand, bilateral bifid toes, and absence of cerebellar vermis with hypoplasia of the hemispheric cortex. Microscopic analysis of the cerebellum demonstrated absence of the subpial granular cell layer and disruption or dysgenesis of the glial architecture. These histopathologic findings suggest that a primary neuronal or glial cell defect, rather than an associated Dandy-Walker malformation, may account for the cerebellar abnormalities in this form of oral-facial-digital syndrome.

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Section: Discussionmentioning

confidence: 99%

Neuropathologic findings in a case of OFDS type VI (V�radi syndrome)

et al. 1998

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“…According to the international osteochondrodysplasia classification, five different types of SRPS have been recognized [4,5] [1]. The significant overlapping phenotypes of these different subtypes suggest that SRPS may be a single group of disorders with variable expressivity [6,7]. SRPS III is phenotypically related to asphyxiating thoracic dystrophy (ATD [MIM 208500]) and Ellis-van Crefeld syndrome (EVC [MIM 225500]).…”

Section: Introductionmentioning

confidence: 99%

Targeted next-generation sequencing identifies novel compound heterozygous mutations of DYNC2H1 in a fetus with short rib-polydactyly syndrome, type III

Mei

Huang

Pan

et al. 2015

Clinica Chimica Acta

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“…Furthermore, Franceschini et al [21] and Bernstein et al [22] mentioned that a wide spectrum of the same genetic disorders are partially overlapping, such as SRPS types I and III. Therefore, the SRPS might represent a group of disorders within a continuous spectrum [21], suggesting a single-locus mutation with variable expressivity which might be related to different mutant alleles and secondary intrauterine modification of the phenotype [22].…”

Section: Comparison Of Findingsmentioning

confidence: 99%

Short Rib-Polydactyly SyndromeType III: Comparison of Ultrasound, Radiology, and Pathology Findings

et al. 2001

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Short rib-polydactyly syndrome (SRPS; types I–IV) is an autosomal recessive, lethal skeletal dysplasia characterized by short-limb dysplasia, narrow thorax, and polydactyly. This syndrome is invariable and can be detected by 2-trimester ultrasound. The underlying gene has not been discovered yet. We report a case of SRPS subtype III Verma-Naumoff-Le Marec that was sonographically detected at 20 weeks’ gestation and compare prenatal ultrasound with postmortem findings from pathology and radiology. Since the risk of recurrence is 25%, early ultrasound for consecutive pregnancies was advised and performed at 11+6 weeks’ gestation in the following pregnancy without any findings. Ultrasound diagnosis in this rare case of SRPS is a valuable tool for identification and early management, since there are no specific biochemical or histopathological markers for this syndrome. Radiological and pathological findings confirmed SRPS type III and assisted in the differential diagnosis of the subtype.

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Short rib‐dysplasia group (with/without polydactyly): Report of a patient suggesting the existence of a continuous spectrum

Cited by 35 publications

References 28 publications

Neuropathologic findings in a case of OFDS type VI (V�radi syndrome)

Neuropathologic findings in a case of OFDS type VI (V�radi syndrome)

Targeted next-generation sequencing identifies novel compound heterozygous mutations of DYNC2H1 in a fetus with short rib-polydactyly syndrome, type III

Short Rib-Polydactyly SyndromeType III: Comparison of Ultrasound, Radiology, and Pathology Findings

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