The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): Report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome

1988 ◽  
Vol 31 (4) ◽  
pp. 805-814 ◽  
Author(s):  
Philippe Moerman ◽  
Jean-Pierre Fryns ◽  
Kamiel Vandenberghe ◽  
Hugo Devlieger ◽  
Joseph M. Lauweryns ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Diaphragmatic Hernia ◽  
Multiple Congenital Anomaly ◽  
Distal Limb ◽  
Limb Anomalies ◽  
Syndrome Report

Familial case of Fryns syndrome in two fetuses in second trimester

2018 ◽  
Author(s):  
I.V. Novikova, S.I. Kovalev, E.I. Marakhovskaya
Keyword(s):  
Congenital Anomaly ◽  
Family History ◽  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Autosomal Recessive ◽  
Second Trimester ◽  
Multiple Congenital Anomaly ◽  
Distal Limb ◽  
Limb Deformity ◽  
Recessive Defect

Fryns syndrome (FS) is a multiple congenital anomaly syndrome, inherited as an autosomal recessive defect with diagnostic triad including diaphragmatic hernia, abnormal face, and distal limb anomalies. Two cases of FS in the fetuses, whose mother had previous affected pregnancy with the infant having diaphragmatic hernia are presented. Both fetuses have atypical limb deformity, ectrodactyly. These cases illustrate the spectrum of FS and the importance of a family history in fetuses with congenital diaphragmatic hernia.

Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome): Report of ten cases and review of the literature

1988 ◽  
Vol 31 (1) ◽  
pp. 99-115 ◽  
Author(s):  
Wolfgang Küster ◽  
Widukind Lenz ◽  
Helena Kääriäinen ◽  
Frank Majewski ◽  
John M. Opitz ◽  
...  
Keyword(s):  
Review Of The Literature ◽  
Distal Limb ◽  
Limb Anomalies ◽  
Scalp Defects ◽  
Syndrome Report

Autosomal dominant B-cell immunodeficiency, distal limb anomalies and urogenital malformations (BILU syndrome) - report of a second family

2004 ◽  
Vol 66 (6) ◽  
pp. 550-555 ◽  
Author(s):  
M Tischkowitz ◽  
F Goodman ◽  
M Koliou ◽  
D Webster ◽  
P Edery ◽  
...  
Keyword(s):  
B Cell ◽  
Autosomal Dominant ◽  
Distal Limb ◽  
Limb Anomalies ◽  
Syndrome Report

scholarly journals Diaphragmatic Hernia as a Prenatal Feature of Glycosylphosphatidylinositol Biosynthesis Defects and the Overlap With Fryns Syndrome – Literature Review

2021 ◽  
Vol 12 ◽  
Author(s):  
Przemyslaw Kosinski ◽  
Milena Greczan ◽  
Aleksandra Jezela-Stanek
Keyword(s):  
Congenital Anomaly ◽  
Literature Review ◽  
Diaphragmatic Hernia ◽  
Congenital Anomalies ◽  
Autosomal Recessive ◽  
Lung Hypoplasia ◽  
Multiple Congenital Anomaly ◽  
Multiple Congenital Anomalies ◽  
Exact Etiology

Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome, with diaphragmatic defects and secondary lung hypoplasia as cardinal features. Despite it was reported first in 1979, its exact etiology has not been established to date. With this review, we would like to draw attention to the prenatal presentation of multiple congenital anomalies syndromes, resulting from defects in the synthesis of glycosylphosphatidylinositol anchors, to be considered in a prenatal assessment of fetuses with DH and Fryns-like phenotype.

Diaphragmatic hernia caused by heterotopic endometriosis in Chilaiditi syndrome: report of a case

Surgery Today ◽  
2014 ◽  
Vol 45 (9) ◽  
pp. 1194-1196 ◽  
Author(s):  
Naoki Haratake ◽  
Koji Yamazaki ◽  
Yasunori Shikada
Keyword(s):  
Diaphragmatic Hernia ◽  
Chilaiditi Syndrome ◽  
Syndrome Report

Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome

2019 ◽  
Vol 95 (4) ◽  
pp. 534-536 ◽  
Author(s):  
Alina T. Midro ◽  
Niels Tommerup ◽  
Jan Borys ◽  
Barbara Panasiuk ◽  
Bożena Kosztyła-Hojna ◽  
...  
Keyword(s):  
Neurodevelopmental Disorder ◽  
Distal Limb ◽  
Limb Anomalies ◽  
Silver Russell Syndrome
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