Fryns syndrome: prenatal diagnosis and pathologic correlation.

Sheffield, Jeanne S.; Twickler, Diane M.; Timmons, Charles F.; Land, Kevin; Harrod, Mary Jo; Ramus, Ronald M.

doi:10.7863/jum.1998.17.9.585

Cited by 17 publications

(26 citation statements)

References 16 publications

(33 reference statements)

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“…This method has since been utilized between the 16th and 36th weeks of gestation to detect structural anomalies in Fryns syndrome such as cleft lip/palate, gastric anomalies, bilateral renal enlargement, and cystic hygroma with hydrops [Sheffield et al, 1998;Ramsing et al, 2000]. One retrospective study of 34 cases of Fryns syndrome documented abnormal ultrasound findings in 15 cases [Pellissier et al, 1992].…”

Section: Discussionmentioning

confidence: 99%

“…One retrospective study of 34 cases of Fryns syndrome documented abnormal ultrasound findings in 15 cases [Pellissier et al, 1992]. Therefore, ultrasonographic study, with consideration of family history or known parental consanguinity may suggest the diagnosis of Fryns syndrome prenatally [Pellissier et al, 1992;Sheffield et al, 1998;Ramsing et al, 2000].…”

Section: Discussionmentioning

confidence: 99%

“…Fryns syndrome has been regarded as a true malformation syndrome with a nonspecific but major disturbance of the midline of the primary field [Dean et al, 1991], and possibly, disruption of lateral embryological structures [Bartsch et al, 1995;Fryns, 1998]. Diaphragmatic hernia, which frequently represents a posterolateral diaphragmatic defect, and lung hypoplasia have been recorded in 80% of affected patients [Bartsch et al, 1995;Sheffield et al, 1998]. It is known that the pleuroparietal folds from which the diaphragm develops depend on normal lung morphogenesis; therefore, it has been concluded that a primary pulmonary disturbance results in a diaphragmatic defect.…”

Section: Discussionmentioning

confidence: 99%

“…The pathogenesis of Fryns syndrome is controversial [Bartsch et al, 1995;Sheffield et al, 1998]. Fryns syndrome has been regarded as a true malformation syndrome with a nonspecific but major disturbance of the midline of the primary field [Dean et al, 1991], and possibly, disruption of lateral embryological structures [Bartsch et al, 1995;Fryns, 1998].…”

Section: Discussionmentioning

confidence: 99%

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Documentation of anomalies not previously described in Fryns syndrome

Arnold

Opitz

et al. 2002

American J of Med Genetics Pt A

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We report on a case of Fryns syndrome with microcephaly, multiple facial anomalies, hypoplasia of distal phalanges, diaphragmatic defect with a thin, translucent diaphragm, microphthalmia (right), anophthalmia (left), and multiple midline developmental defects including gastroschisis, central nervous system defects including left arrhinencephaly and cerebellar hypoplasia, midline cleft of the upper lip, alveolar ridge and maxillary bone, and cleft nose with bilateral choanal atresia. These defects add to our knowledge of the phenotype of Fryns syndrome.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Documentation of anomalies not previously described in Fryns syndrome

Arnold

Opitz

et al. 2002

American J of Med Genetics Pt A

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“…Fryn syndrome was diagnosed in the prenatal ultrasound scan by detection of diaphragmatic hernias and polyhydramnios by Manouvrier-Hanu et al (1996). 6 Fryns syndrome was diagnosed prenatally as early at 16 weeks by Jeanne S. Sheffield et al 8 Peron et al (2014) 9 had reported polyhydramnios in the second trimester in 56% of cases and a diaphragmatic hernia in more than 80% of the babies with fryns syndrome. Our case had a diaphragmatic hernia one of the key features in the prenatal diagnosis of fryns syndrome.…”

Section: Case Reportmentioning

confidence: 99%

Antenatal sonographic diagnosis of fryns syndrome: A case report

2020

IJOGR

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Fryns et al described a syndrome in the year 1979.1 Fryns syndrome is characterized by diaphragmatic defects, facial dysmorphism including coarse face, hypertelorism, broad and flat nasal bridge, with thick nasal tip, long philtrum, tented upper lip, wide mouth, micrognathia, low set and poorly formed ears and distal digital hypoplasia, pulmonary hypoplasia and others. 2 We report a case of fryns syndrome in twenty-nine years old, Chinese, primigravida diagnosed during antenatal ultrasound scan at 26 weeks of gestation. The diagnosis has been confirmed by clinical finding, ultrasound, X-ray chest, CT brain, and ECHO at the postnatal period.

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Fryns syndrome: A review of the phenotype and diagnostic guidelines

Slavotinek

2003

American J of Med Genetics Pt A

105

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Fryns syndrome (FS) is the commonest autosomal recessive syndrome associated with congenital diaphragmatic hernia (CDH) and comprises CDH, pulmonary hypoplasia, craniofacial anomalies, distal limb hypoplasia, and internal malformations. Although there have been more than 50 case reports on probands with FS, the diagnostic guidelines were formulated from a review of eight patients and modifications to the guidelines have only once been suggested. Recently, several case reports have described new anomalies in FS and other papers have highlighted the variation in expressivity found in FS. This paper examines the medical literature on FS to define the phenotype and to review the diagnostic guidelines. We conclude that CDH with brachytelephalangy and/or nail hypoplasia is strongly suggestive of the diagnosis and that pulmonary hypoplasia, craniofacial dysmorphism, orofacial clefting, and polyhydramnios are sufficiently frequent to be diagnostically useful. Other distinctive malformations that are consistent with FS include ventricular dilatation or hydrocephalus, agenesis of the corpus callosum, neuronal or cerebellar heterotopias, abnormalities of the aorta, renal cysts, dilatation of the ureters, bicornuate uterus, renal dysplasia, proximal thumbs, and broad clavicles.

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Fryns syndrome: prenatal diagnosis and pathologic correlation.

Cited by 17 publications

References 16 publications

Documentation of anomalies not previously described in Fryns syndrome

Documentation of anomalies not previously described in Fryns syndrome

Antenatal sonographic diagnosis of fryns syndrome: A case report

Fryns syndrome: A review of the phenotype and diagnostic guidelines

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