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 Table of Contents  
CASE REPORT
Year : 2021  |  Volume : 10  |  Issue : 4  |  Page : 245-247

A gershoni-baruch syndrome variant or a new association


1 Department of Obstetrics and Gynecology, Faculty of Medicine, Adiyaman University, Adiyaman; Department of Obstetric of Gynecology, Health Sciences University, Adana City Training and Research Hospital, Adana, Turkey
2 Department of Medical Genetic, Faculty of Medicine, Adiyaman University, Adiyaman, Turkey
3 Department of Obstetrics and Gynecology, Faculty of Medicine, Adiyaman University, Adiyaman, Turkey
4 Department of Obstetrics and Gynecology, Faculty of Medicine, Adiyaman University, Adiyaman; Clinic of Obstetric of Gynecology, Yuregir Government Hospital, Adana, Turkey

Date of Submission02-Jun-2021
Date of Decision07-Jun-2021
Date of Acceptance22-Jul-2021
Date of Web Publication24-Sep-2021

Correspondence Address:
Mustafa Kaplanoglu
Department of Obstetric of Gynecology, Health Sciences University, Adana City Training and Research Hospital, Adana
Turkey
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jcn.jcn_71_21

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  Abstract 


A pregnant woman with no previous routine pregnancy follow-up referred to our obstetrics clinic. Ultrasonography revealed the presence of a fetal heartbeat 26 weeks and 4 days old. Polyhydramnios, omphalocele, a diaphragmatic hernia, left ventricular hypoplasia, an occipital bone defect, a fetal head in severe retroflexion, and exaggerated cervicothoracic lordosis were detected in the fetus. After obtaining parental consent, the board decided to terminate the pregnancy. An examination performed after the termination revealed that the fetus was female and weighed 780 g. The first phalanx of the left thumb was hypoplastic. An X-ray examination showed coat hanger–shaped costal fusions and cranial structures consistent with iniencephaly. Fetus karyotyping revealed a normal 46, XX female karyotype. We speculate that this case represents a variant of Gershoni-Baruch syndrome.

Keywords: Diaphragmatic hernia, Gershoni-Baruch syndrome, iniencephaly, omphalocele, radial ray defect


How to cite this article:
Kaplanoglu M, Cevik MO, Bulbul M, Kaplanoğlu DK, Bagıs H. A gershoni-baruch syndrome variant or a new association. J Clin Neonatol 2021;10:245-7

How to cite this URL:
Kaplanoglu M, Cevik MO, Bulbul M, Kaplanoğlu DK, Bagıs H. A gershoni-baruch syndrome variant or a new association. J Clin Neonatol [serial online] 2021 [cited 2021 Dec 2];10:245-7. Available from: https://www.jcnonweb.com/text.asp?2021/10/4/245/326615




  Introduction Top


Although omphalocele and diaphragmatic hernias can be isolated disorders, in approximately 50% of cases, they co-occur with other anomalies.[1],[2] Radius and finger anomalies can also be added to multiple malformation syndromes, such as Fanconi aplastic anemia and Balci-Gershoni-Baruch syndrome (GBS). A combination of these anomalies, along with a neural tube defect, can be defined as a schisis association. The most common accompanying neural tube defects are anencephaly and encephalocele.[3] Here, we report a combination of omphalocele, diaphragmatic hernia, cardiac abnormalities, finger abnormalities, and iniencephaly that has not been previously described in the literature and provide a probable diagnosis.


  Case Report Top


A 42-year-old gravida 8, parity 7 pregnant woman with no previous pregnancy follow-up visited our clinic for an obstetric appointment. She had no consanguinity with her spouse and no pathology in her obstetric history. Obstetric ultrasonography revealed a fetal heartbeat 26 weeks and 4 days old. A detailed examination revealed polyhydramnios, omphalocele containing a bowel segment, a diaphragmatic hernia, left ventricular hypoplasia, an occipital bone defect, a fetal head in severe retroflexion, and exaggerated cervicothoracic lordosis [Figure 1]. Consultation was provided to the family by the Department of Obstetrics and Gynaecology Committee, and a decision was made to terminate the pregnancy. The termination was approved by the Obstetrics and Gynaecology Committee of the Medical Faculty of Adiyaman University. Samples were taken from the parents at the same time for chromosome analysis. A physical examination conducted after the termination showed that the fetus was a 780-g female [Figure 2]. In addition to the ultrasonography findings, hypoplasia of the left thumb's first phalanx and iniencephaly (short spine and neck, mandibular skin touching the chest, wide head structure at retroflexion, micrognathia, and low-set ears) were observed. An X-ray examination revealed coat hanger–shaped costal fusions but no anomalies in the radius-ulna or lower extremities [Figure 3]. Fetal cytogenetic analysis revealed a normal 46, XX female karyotype.
Figure 1: Transverse sonographic scene showing fetal omphalocele. An addition, sonographic image showing fetal stomach located in the right thorax and heart compressed to the left side

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Figure 2: External view of the fetus. Fetal omphalocele and iniencephaly were easily detected

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Figure 3: X-ray scan of the fetus

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  Discussion Top


GBS is a rare multiple congenital malformation complex. Patients may be misdiagnosed until the underlying etiology is known. Gershoni-Baruch described a complex disease with diaphragmatic hernia, omphalocele, radial beam defects, and cardiovascular abnormalities.[4] Omphalocele can be defined as a physiological defect in the midgut returning to the abdominal cavity in the early stage of fetal development. It is associated with other system anomalies at a rate of 27%–63%[5],[6] and is most commonly accompanied by musculoskeletal anomalies (23.5%). Omphalocele can also be accompanied by gastrointestinal system ( 10.6%), central nervous system (CNS) (15.1%), and urinary system abnormalities (17.4%) and diaphragmatic hernia (5.3%). Chromosomal anomalies are also present at a rate of 7.5%–46.9%, the most common being trisomy 18.[5],[7],[8]

Many cases presenting with omphalocele or CNS and vertebral anomalies have been reported in the literature. Cases associated with vertebral anomalies are thought to belong to the vertebral anomalies, anal atresia, cardiac defects, tracheoesophageal fistula and/or esophageal atresia, renal and radial anomalies, and limb defects association spectrum. However, CNS anomalies, such as iniencephaly and anencephaly, are not currently thought to be included in this association. Omphalocele can also be found in the omphalocele-exstrophy-imperforate anus-spinal defects complex, which generally includes genitourinary and skeletal anomalies in addition to gastrointestinal system anomalies, such as omphalocele.[9] CNS anomalies are rarer. Common CNS anomalies include Chiari malformation, cerebral cortical atrophy, and periventricular leukomalacia.

Radial ray defects have been reported as part of many syndromes and associations. However, combinations of omphalocele and radial ray defects have rarely been identified.[4],[10],[11],[12] The radial ray defects in these cases belong to a wide spectrum, including a simple thumb anomaly, radioulnar synostosis, and the absence of a radius. Although genetic inheritance could not be ascertained in all these cases, some cases were thought to be X-linked dominant (“spectrum of schisis defects”).[13] Autosomal recessive inheritance patterns have also been identified.[3],[4],[5],[6],[7],[8],[9],[10],[11],[12],[13],[14] Disorders that include omphalocele and radial ray defects have many variations but can collectively be named Balci–GBS, after the authors who first identified the disorder.[15] Our case findings are similar to those of other disorders in terms of differential diagnosis but differ due to the presence of iniencephaly [Table 1]. An omphalocele, thumb anomaly, diaphragmatic hernia, and cardiac anomaly (left ventricular hypoplasia) association have rarely been reported in the literature. CNS anomalies are rarely found in this disorder. Encephalocele is the most common. Our case had the classic face, neck, and cerebral form of iniencephaly. The genetic factors involved in most GBS cases are unknown. The inheritance of GBS is complex and not completely understood.
Table 1: Clinical features of other Gershoni-Baruch syndrome in the literature

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More case reports and genetic analyses are needed to better explain the clinical features and underlying genetic causes of GBS. To identify the genetic causes of this syndrome, it seems necessary to perform whole-exome sequencing (WES), a new-generation sequencing technology, in terminated fetuses or in newborns. According to the WES results of the fetus, it is necessary to examine the pathogenic variant in the mother and father.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that names and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

Acknowledgment

The authors would like to thank Medical Genetic Laboratory Intergen staff for karyotyping test.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Enns GM, Cox VA, Goldstein RB, Gibbs DL, Harrison MR, Golabi M. Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: A retrospective study of 60 patients and literature review. Am J Med Genet 1998;79:215-25.  Back to cited text no. 1
    
2.
Skari H, Rognerud H, Haugen G, Emblem R. Prenatal ultrasound diagnosis of congenital diaphragmatic hernia and meningomyelocele: A case report with literature review. Acta Obstet Gynecol Scand 2000;79:800-2.  Back to cited text no. 2
    
3.
Franceschini P, Guala A, Licata D, Botta G, Flora F, Angeli G, et al. Gershoni-Baruch syndrome: Report of a new family confirming autosomal recessive inheritance. Am J Med Genet A 2003;122A:174-9.  Back to cited text no. 3
    
4.
Gershoni-Baruch R, Machoul I, Weiss Y, Blazer S. Unknown syndrome: Radial ray defects, omphalocele, diaphragmatic hernia, and hepatic cyst. J Med Genet 1990;27:403-4.  Back to cited text no. 4
    
5.
Slavotinek AM. The genetics of common disorders – Congenital diaphragmatic hernia. Eur J Med Genet 2014;57:418-23.  Back to cited text no. 5
    
6.
Tan KH, Kilby MD, Whittle MJ, Beattie BR, Booth IW, Botting BJ. Congenital anterior abdominal wall defects in England and Wales 1987-93: Retrospective analysis of OPCS data. BMJ 1996;313:903-6.  Back to cited text no. 6
    
7.
Rankin J, Dillon E, Wright C. Congenital anterior abdominal wall defects in the north of England, 1986-1996: Occurrence and outcome. Prenat Diagn 1999;19:662-8.  Back to cited text no. 7
    
8.
Nicolaides KH, Snijders RJ, Cheng HH, Gosden C. Fetal gastrointestinal and abdominal wall defects: Associated malformations and chromosomal abnormalities. Fetal Diagn Ther. 1992;7:102-115.  Back to cited text no. 8
    
9.
Haldar A, Sharma AK, Phadke SR, Jain A, Agarwal SS. OEIS complex with craniofacial anomalies--defect of blastogenesis? Am J Med Genet 1994;53:21-3.  Back to cited text no. 9
    
10.
Balci S, Atasu M, Hiçsönmez A. A case of omphalocele with absence of the thumb and syndactily. Turk J Pediatr 1974;16:37-41.  Back to cited text no. 10
    
11.
Lin HJ, Schaber B, Hashimoto CH, Barajas L, Beall MH, Lachman RS. Omphalocele with absent radial ray (ORR): A case with diploid-triploid mixoploidy. Am J Med Genet 1998;75:235-9.  Back to cited text no. 11
    
12.
Valfrè L, Baban A, Digilio MC, Bevilacqua F, Bagolan P, Conforti A. Gershoni-Baruch syndrome: First report of a surviving child. Am J Med Genet A 2016;170:707-11.  Back to cited text no. 12
    
13.
Carmi R, Barbash A, Mares AJ. The thoracoabdominal syndrome (TAS): A new X-linked dominant disorder. Am J Med Genet 1990;36:109-14.  Back to cited text no. 13
    
14.
Bird LM, Newbury RO, Ruiz-Velasco R, Jones MC. Recurrence of diaphragmatic agenesis associated with multiple midline defects: Evidence for an autosomal gene regulating the midline. Am J Med Genet 1994;53:33-8.  Back to cited text no. 14
    
15.
Ceylaner S, Ceylaner G, Altun M, Coskun A, Danisman N. Prenatal diagnosis of a case with anencephaly-omphalocele-unilateral absent radial ray. Genet Couns 2009;20:189-93.  Back to cited text no. 15
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]
 
 
    Tables

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