Fryns syndrome without diaphragmatic hernia?

Willems, Patrick J.; Keersmaekers, Guy H. A.; Dom, Koen E.; Colpaert, Cécile; Schatteman, Etienne; Vergote, Ignace; Dumon, Jan E.

doi:10.1002/ajmg.1320410225

Cited by 25 publications

(20 citation statements)

References 12 publications

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“…In case 5, the diaphragm was vaulted with rarefication of muscle fibers but appeared otherwise intact. Five similar cases of diaphragmatic eventration have been reported [Lubinsky et al, 1983;Young et al, 1986;Schwyzer et al, 1987;Willems et al, 1991;Stratton et al, 1993]. Four of these children with diaphragmatic eventration presented as isolated cases, which might call the diagnosis in question.…”

Section: Discussionmentioning

confidence: 86%

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

et al. 2000

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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.

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Section: Discussionmentioning

confidence: 86%

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

et al. 2000

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“…No microphthalmia, renal dysplasia, and cerebral malformations. It is interesting that primary pulmonary hypoplasia without a diaphragmatic defect has also been described in Fryns syndrome [Willems et al, 1991;Wilgenbus et al, 1994]. Furthermore, chromosomal abnormalities, such as deletions of 15q26.2, 8p23.1, and 1q41-q42.12, have been associated with the congenital diaphragmatic herniaof Fryns syndrome [Slavotinek et al, 2005;Kantarci et al, 2006].…”

Section: Discussionmentioning

confidence: 96%

Matthew‐Wood syndrome: Report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2

Martinovic-Bouriel

Bernabé-Dupont

Golzio

et al. 2007

American J of Med Genetics Pt A

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We describe two fetal cases of microphthalmia/anophthalmia, pulmonary agenesis, and diaphragmatic defect. This rare association is known as Matthew-Wood syndrome (MWS; MIM 601186) or by the acronym "PMD" (Pulmonary agenesis, Microphthalmia, Diaphragmatic defect). Fewer than ten pre- and perinatal diagnoses of Matthew-Wood syndrome have been described to date. The cause is unknown, and the mode of transmission remains unclear. Most cases have been reported as isolated and sporadic, although recurrence among sibs has been observed once. Our two cases both occurred in consanguineous families, further supporting autosomal recessive transmission. In addition, in one family at least one of the elder sibs presented an evocatively similar phenotype. The spatiotemporal expression pattern of the FGF10 and FGFR2 genes in human embryos and the reported phenotypes of knockout mice for these genes spurred us to examine their coding sequences in our two cases of MWS. While in our patients, no causative sequence variations were identified in FGF10 or FGFR2, this cognate ligand-receptor pair and its downstream effectors remain functional candidates for MWS and similar associations of congenital ocular, diaphragmatic and pulmonary malformations.

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“…Five children have been reported without lung hypoplasia [Bamforth et al, 1989;Kershisnik et al, 1991;Hanssen et al, 19921, of whom 2 survived. Six other children did not have a diaphragmatic hernia, but had other abnormalities (high implantation, eventration, fibrous atrophy) with concomitant lung hypoplasia; 4 died in the perinatal period [Lubinsky et al, 1983;Young et al, 1986;Schwyzer et al, 1987;Willems et al, 1991;Ficcadenti et al, 1993;Stratton et al, 19931. Despite a diaphragmatic hernia and lung hypoplasia, our patient responded t o standard treatment.…”

Section: Discussionmentioning

confidence: 96%

Fryns syndrome survivors and neurologic outcome

et al. 1995

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Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome characterized by diaphragmatic hernia, unusual facies, and distal limb hypoplasia. It was first reported as a lethal condition. We report on a three-year-old survivor with Fryns syndrome, and provide a review on the outcome of other survivors. Patients who survive the neonatal period represent 14% of reported cases. Characteristics of survivors include less frequent diaphragmatic hernia and milder lung hypoplasia, absence of complex cardiac malformation, and neurologic impairment. Multiple central nervous system abnormalities have been reported in Fryns syndrome, including agenesis of the corpus callosum, Dandy-Walker abnormality, cerebellar heterotopias, cerebellar hypoplasia, enlarged ventricles, and hypoplasia of the olfactory bulbs. Our patient exhibited profound mental retardation. He had malformations of gyration and sulcation, particularly around the central sulcus, and hypoplastic optic tracts beyond the optic chiasm. Understanding of long-term outcome of survivors is important for counseling of families with Fryns syndrome. Careful brain examination is advised; however, a normal radiological brain examination does not preclude developmental delay. The spectrum of individual outcome and of associated anomalies indicates that individual evaluation, including imaging for structural brain malformation, is strongly advised.

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Fryns syndrome without diaphragmatic hernia?

Cited by 25 publications

References 12 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

Matthew‐Wood syndrome: Report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2

Fryns syndrome survivors and neurologic outcome

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