Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): A new syndrome?

Rocco, Maja Di; Picco, Paolo; Arslanian, A; Restagno, Gabriella; Perfumo, Francesco; Buoncompagni, Antonella; Gattorno, Marco; Borrone, C

doi:10.1002/(sici)1096-8628(19971128)73:1<1::aid-ajmg1>3.0.co;2-y

Cited by 37 publications

(24 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Four short-rib polydactylous skeletal dysplasias (asphyxiating thoracic dysplasia or Jeune syndrome, short-rib polydactyly syndrome [SRPS], type I or Saldino-Noonan type SRPS, and type II or Majewski type, and Ellis-van Creveld syndrome) as well as a craniosynostosis (acrocephalo-polydactylous or Elejalde syndrome) are well-recognized malformation syndromes with prevalent bone involvement that may manifest as malformations of the ductal plate of the liver [32][33][34]. Another group of malformations includes the Loken-Senior syndrome, the RHYNS syndrome (retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia), and the Bardet-Biedl syndrome, which have a retinal involvement varying from retinal a/hypoplasia to pigmentary retinopathy [35][36][37][38][39]. Ivemark described a syndrome characterized by asplenia and cardiovascular anomalies that is usually sporadic [40].…”

Section: Discussionmentioning

confidence: 99%

Study of the Malformation of Ductal Plate of the Liver in Meckel Syndrome and Review of Other Syndromes Presenting with this Anomaly

et al. 2000

View full text Add to dashboard Cite

Meckel syndrome (MIM 249.000) is an autosomal recessive disorder with a variable spectrum of anomalies. Since the first reports of this syndrome, very broad diagnostic criteria have been proposed, but the process of defining them continues. It is probable that at least two of three manifestations, including cystic kidney dysplasia, occipital encephalocele or other anomaly of the central nervous system, and postaxial polydactyly occur in most cases. Arrest of the development of intrahepatic bile ducts at the stage of the bilaminar plate formation or ductal plate malformation is considered of high diagnostic value in Meckel syndrome, but there is no complete agreement in the literature about its occurrence. The aims of this investigation were to study the prevalence and morphologic patterns of ductal plate malformation of the liver in Meckel syndrome by evaluating the dilatation of primitive biliary structures and the increase in connective tissue of the portal tract. Archival data files from four German centers (Berlin, Freiburg, Heidelberg, Mainz) were reviewed. Liver sections of 30 well-studied fetuses with Meckel syndrome were immunostained with antibodies against cytokeratins (intermediate filaments of the cytoskeleton) and factor VIII (an endothelial cell marker) and were evaluated both qualitatively and quantitatively. Cystic kidney dysplasia, occipital encephalocele, and postaxial polydactyly were found in 100%, 90%, and 83.3% of the fetuses, respectively. Ductal plate malformation of the liver was a constant anomaly in Meckel syndrome, seen as frequently as renal lesions. We observed essentially two kinds of hepatic lesions: 23 cases showed mainly a cystic dilatation of primitive biliary structures with little portal fibrosis, while 7 cases showed mainly rings of interrupted curved lumina around a central fibrovascular axis and pronounced portal fibrosis. In these seven cases an abnormal pattern of the portal vein, with many small and closely spaced branches of the portal vein (the so-called pollard willow pattern), was also seen. With respect to other fetal developmental anomalies, no difference between the two types of lesions was found. We also provide a potentially useful comprehensive review of other genetic syndromes in which ductal plate malformations may occur.

show abstract

Section: Discussionmentioning

confidence: 99%

Study of the Malformation of Ductal Plate of the Liver in Meckel Syndrome and Review of Other Syndromes Presenting with this Anomaly

et al. 2000

View full text Add to dashboard Cite

show abstract

“…These include Jeune syndrome (asphyxiating thoracic dysplasia)116–119, Ellis van Creveld syndrome120, RHYNS syndrome ( r etinitis pigmentosa, hy popituitarism, N PHP, s keletal dysplasia)121, Meckel-Gruber syndrome110,111, and Sensenbrenner syndrome (cranioectodermal dysplasia)122,123. The association of NPHP with cone-shaped epiphyses of the phalanges (type 28 and 28A) is known as Mainzer-Saldino syndrome , and occurred in patients who also had retinal degeneration and cerebellar ataxia92.…”

Section: Cystogenesis: Defective Regulation Of Planar Cell Polarity?mentioning

confidence: 99%

Nephronophthisis

Hildebrandt¹,

Attanasio²,

Otto³

2009

Journal of the American Society of Nephrology

329

349

View full text Add to dashboard Cite

“…(retinitis pigmentosa, hypopituitarism and skeletal dysplasia), 21 Alstrom syndrome, COACH syndrome, Jeune syndrome and Arima syndrome ( Table 1).…”

Section: Rhynsmentioning

confidence: 99%