Osteochondrodysplasia in Fryns Syndrome

Kershisnik, Matthew M.; Craven, Catherine; Jung, August L.; Carey, John C.; Knisely, A. S.

doi:10.1001/archpedi.1991.02160060074024

Cited by 19 publications

(31 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Four of these children with diaphragmatic eventration presented as isolated cases, which might call the diagnosis in question. However, two infants with diaphragmatic eventration [Lubinsky et al, 1983; case 5 in present report] and two infants with no diaphragmatic anomalies [Bamforth et al, 1989;Kershisnik et al, 1991] had sibs with posterolateral diaphragmatic defects and other malformations, which is consistent with Fryns syndrome.…”

Section: Discussionsupporting

confidence: 78%

See 1 more Smart Citation

Variability in the phenotypic expression of Fryns syndrome: A report of two sibships

et al. 2000

View full text Add to dashboard Cite

We report on two sibships with four fetuses of 12, 15, 17, and 20 weeks of gestation, respectively, and 1 preterm baby of 31 weeks of gestation affected by a multiple congenital disorder with manifestation suggestive of Fryns syndrome. In addition to the characteristic malformation pattern in Fryns syndrome, they presented with fetal hydrops, cystic hygroma, and multiple pterygias, allowing prenatal ultrasound diagnosis as early as in the 11th week of gestation. The two affected fetuses of family 1 showed severe craniofacial anomalies with bilateral cleft lip and palate, acral hypoplasia, postaxial oligodactyly, persistent truncus arteriosus, and interrupted aortic arch, asplenia sequence, and complex central nervous system midline malformations. In family 2 with three affected sibs, ear anomalies with atresia of the auditory canals, postaxial hexadactyly, intestinal atresias, callosal defects, and eye colobomas were the most outstanding features. On the basis of the present findings and former reports, the inter- and intrafamiliar phenotypic variability in Fryns syndrome, possible pathogenetic mechanisms, and the value of prenatal diagnosis are discussed. In the pathogenetic discussion, a special emphasis is put on the neural crest cell developmental field.

show abstract

Section: Discussionsupporting

confidence: 78%

“…However, 11 children with presumed Fryns syndrome showed no diaphragmatic anomalies at all [Rü diger et al, 1971;Bamforth et al, 1989;Kershisnik et al, 1991;Hanssen et al, 1992;Wilgenbus et al, 1994;Bartsch et al, 1995]. In case 5, the diaphragm was vaulted with rarefication of muscle fibers but appeared otherwise intact.…”

Section: Discussionmentioning

confidence: 99%

Variability in the phenotypic expression of Fryns syndrome: A report of two sibships

et al. 2000

View full text Add to dashboard Cite

show abstract

“…This last possibility was most intriguing, in that our patient had many of the same phenotypic findings as those which have been described in Fryns syndrome. Fryns syndrome is a multiple congenital anomaly syndrome first described by Fryns et al [19791, and subsequently reported in several other patients worldwide [Aymk et al, 1989;Cunniff et al, 1990;Kershisnik et al, 1991;Langer et al, 1994;Lubinsky et al, 1983;Meinecke and Fryns, 1985;Stratton et al, 1993;Tsukahara et al, 19951. The manifestations of Fryns syndrome were reviewed recently [Bamforth et al, 1989;McPherson et al, 19931, and include craniofacial manifestations such as "coarse" face, broad flat nasal bridge, macrostomia, microretrognathia, and poorly-modelled ears with attached lobes.…”

Section: Clinical Reportmentioning

confidence: 99%

Congenital pulmonary lymphangiectasia and other anomalies in a child: Provisionally unique syndrome?

et al. 1996

View full text Add to dashboard Cite

show abstract

“…Diğer eşlik eden anomaliler arasında iskelet sistemi, kardiovasküler, gastrointestinal, genitoüriner ve santral sinir sistemi anaomalileri bulunmaktadır 4,5 . Otozomal resesif geçiş gösteren bu sendromla doğan bebeklerin büyük çoğunluğu doğumdan kısa bir süre sonra pulmoner hipoplazi nedeniyle kaybedilmektedir.…”

Section: Introductionunclassified

Lujan-Fryns sendromlu bir hastada ameliyathane dışı anestezi

Sargın¹,

Uluer²,

Şahin³

2016

Cukurova Medical Journal (Çukurova Üniversitesi Tıp Fakültesi Dergisi)

View full text Add to dashboard Cite

AbstractÖz Lujan-Fryns syndrome, described by Fryns et al in 1979 is an autosomal recessive syndrome which is characterized by multiple congenital anomalies. Lujan-Fryns syndrome is a rare syndrome involving many anomalies like dysmorphic facial features, cleft palate, diaphragmatic hernia, that may affect the anesthesia practice. Anesthetic management about the anesthesia and / or non-operating room is limited literature. We aim to provide management of non-operating room anesthesia in a patients with Lujan-Fryns syndrome.Lujan-Fryns sendromu 1979 yılında Fryns tarafından tanımlanan otozomal resesif geçiş gösteren multipl konjenital anomali ile karakterize bir sendromdur. Dismorfik yüz hatları, yarık damak, diyafragma hernisi gibi anestezi pratiğini etkileyebilecek bir çok anomali içeren nadir bir sendromdur. Anestezi ve/veya ameliyathane dışı anestezi yönetimi ile ilgili literatür bilgisi sınırlıdır. Burada Lujan-Fryns sendromlu bir olguda ameliyathane dışı anestezi yönetimini literatür eşliğinde sunmayı amaçladık.

show abstract

Osteochondrodysplasia in Fryns Syndrome

Cited by 19 publications

References 17 publications

Variability in the phenotypic expression of Fryns syndrome: A report of two sibships

Variability in the phenotypic expression of Fryns syndrome: A report of two sibships

Congenital pulmonary lymphangiectasia and other anomalies in a child: Provisionally unique syndrome?

Lujan-Fryns sendromlu bir hastada ameliyathane dışı anestezi

Contact Info

Product

Resources

About