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.

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.

scholarly journals Cardiofaciocutaneus syndrome: literature review and case report

2019 ◽  
Vol 8 (4) ◽  
pp. 49-53
Author(s):  
V. V. Umnov ◽  
N. V. Nikitina ◽  
A. M. Khodorovskaya ◽  
O. V. Barlova
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Literature Review ◽  
Developmental Delay ◽  
Congenital Anomalies ◽  
Mapk Pathway ◽  
Heart Defects ◽  
Multiple Congenital Anomalies ◽  
Cardiofaciocutaneous Syndrome

The cardiofaciocutaneous syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. The syndrome is caused by molecular disturbances in the RAS/MAPK pathway. We report on the girl, 9 year-old, with the cardiofaciocutaneous syndrome presenting with typical craniofacial appearance, heart defects, ectodermal abnormalities, neglected orthopedic pathology, developmental delay and spasticity, which rare in this syndrome.

scholarly journals Left-Sided Congenital Diaphragmatic Hernia with Multiple Congenital Cardiac Anomalies, Hernia Sac, and Microscopic Hepatic Heterotopia: A Case Report

2011 ◽  
Vol 2011 ◽  
pp. 1-4 ◽  
Author(s):  
Maria Arafah ◽  
Deena T. Boqari ◽  
Khaled O. Alsaad
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Congenital Anomalies ◽  
Pathological Finding ◽  
Hepatic Tissue ◽  
Multiple Congenital Anomalies ◽  
Hernia Sac ◽  
Congenital Cardiac Anomalies ◽  
Life Threatening ◽  
Uncertain Etiology

Congenital diaphragmatic hernia is a common congenital anomaly of uncertain etiology. Its association with multiple congenital anomalies in various organs is well recognized and antenatal radiological evidence of congenital diaphragmatic hernia warrants thorough evaluation to detect other anomalies, some of which can be life threatening. Rarely, heterotopic hepatic tissue is identified in the hernia, a rare pathological finding, exhibiting more than one macroscopic and microscopic characteristics, and always associated with cardiac congenital anomalies. Herein, we report a case of left-sided microscopic heterotopic hepatic tissue in a congenital diaphragmatic hernia in an infant with multiple cardiac congenital anomalies, but with preserved pericardium.

The Fetal Alcohol Syndrome and Neuroblastoma

PEDIATRICS ◽  
1980 ◽  
Vol 66 (1) ◽  
pp. 130-132
Author(s):  
Hannah Kinney ◽  
Roger Faix ◽  
Jane Brazy
Keyword(s):  
Case Report ◽  
Neural Crest ◽  
Fetal Alcohol Syndrome ◽  
Diaphragmatic Hernia ◽  
Congenital Anomalies ◽  
Adrenal Carcinoma ◽  
Multiple Congenital Anomalies ◽  
Fetal Alcohol ◽  
Neural Crest Tumors

In 1977 Hornstein et al1 reported the occurrence of adrenal carcinoma in a child with fetal alcohol syndrome. Recently Seeler et al2 noted a ganglioneuroblastoma in a child with fetal hydantoin-alcohol syndromes. The association of neural crest tumors with fetal hydantoin syndrome now appears established.2 The following case suggests an association with neoplasia may also exist for fetal alcohol syndrome. CASE REPORT Clinical Summary T.E. was the 1,360 gm product of a 35-week gestation born to a 30-year old, black primigravida. At 11 days of age the patient was transferred to Duke Hospital for evaluation of multiple congenital anomalies and repair of a right-sided diaphragmatic hernia.

Agenesis of the epiglottis and false vocal folds with maxillary hypoplasia in an adult

2003 ◽  
Vol 117 (11) ◽  
pp. 895-898 ◽  
Author(s):  
Ki Hwan Hong ◽  
Yoon Soo Yang
Keyword(s):  
Congenital Anomaly ◽  
Early Childhood ◽  
Congenital Anomalies ◽  
Vocal Folds ◽  
Feeding Problems ◽  
Multiple Congenital Anomalies ◽  
Maxillary Hypoplasia ◽  
Organ Systems ◽  
Infancy And Early Childhood ◽  
False Vocal

Hypoplasia or absence of the epiglottis in an adult is a rarely reported congenital anomaly that usually occurs in association with congenital anomalies of other organ systems. Most epiglottic anomalies usually present in infancy and early childhood with respiratory and feeding problems and the affected individual dies shortly after birth due to multiple congenital anomalies. We present a case of congenital absence of the epiglottis and false vocal folds with hypoplastic maxillae in an adult.

New Case of Beemer-Langer Syndrome

2000 ◽  
Vol 3 (3) ◽  
pp. 281-285 ◽  
Author(s):  
Gordan M. Vujanić ◽  
Nicholas C.A. Hunt
Keyword(s):  
Congenital Anomalies ◽  
Autosomal Recessive ◽  
Male Infant ◽  
Hydrops Fetalis ◽  
Arachnoid Cysts ◽  
Autosomal Recessive Mode ◽  
Multiple Congenital Anomalies ◽  
The Brain ◽  
Mode Of Inheritance

We present the case of a male infant born at 37 weeks gestation with multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly. We believe that this represents a further case of the Beemer-Langer syndrome, a relatively recently described form of lethal osteochondrodysplasia with an autosomal recessive mode of inheritance. This case also showed some less frequently described anomalies, including arachnoid cysts of the brain and short intestines.

Adrenal Fusion

1998 ◽  
Vol 1 (6) ◽  
pp. 475-479 ◽  
Author(s):  
Edward C. Klatt ◽  
Theodore J. Pysher ◽  
Zdena Pavlova
Keyword(s):  
Congenital Anomaly ◽  
Central Nervous System ◽  
Nervous System ◽  
Congenital Anomalies ◽  
Adrenal Glands ◽  
Renal Agenesis ◽  
Multiple Congenital Anomalies ◽  
Rare Congenital Anomaly ◽  
Internal Genitalia ◽  
Adrenal Hypoplasia

Fusion of the adrenal glands is a rare congenital anomaly. The six cases described here were encountered in 3537 pediatric-perinatal autopsy cases. A fused adrenal was always associated with multiple congenital anomalies, including major central nervous system malformations in four cases, renal agenesis in three cases, anomalies of internal genitalia in three cases, and complex cardiac anomalies in two cases. The fused adrenal had either a horseshoe or butterfly shape. Neither adrenal hypoplasia nor hyperplasia appeared to be present, and the histologic appearance of the fused adrenal was normal in all cases.

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