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CASE REPORT
Year : 2018  |  Volume : 7  |  Issue : 2  |  Page : 147-153

Fryns syndrome: A rare case report with review of literature


Department of Pathology, KLE University's Jawaharlal Nehru Medical College, Belagavi, Karnataka, India

Date of Web Publication6-Jun-2018

Correspondence Address:
Dr. Tanima Dwivedi
Emergency Laboratory, Institute of Human Behaviour and Allied Sciences, New Delhi
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/JDRNTRUHS.JDRNTRUHS_121_16

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  Abstract 


Fryns syndrome is a rare multiple congenital anomaly syndrome with incidence of 0.7-1 in 10,000 births. Characteristic features of this syndrome are congenital diaphragmatic hernia, lung hypoplasia, unusual facial features, limb defects and parental consanguinity. Here we report a case of Fryns syndrome of consanguineous parents at the gestation age of 27 week old. Mother presented to department of obstetrics and gynaecology with inability to perceive fetal movements. Ultasonography revealed polyhydramnios, intrauterine growth retardation, and congenital anomaly of diaphragm and absence of fetal heart sound. Based on ultrasound findings, clinical diagnosis of congenital diaphragmatic hernia was made for which therapeutic abortion was performed and a still born fetus was delivered which was sent for post mortem study. On autopsy, diagnosis of Fryns syndrome was made.

Keywords: Congenital diaphragmatic hernia, fryns syndrome, lung hypoplasia, parental consanguinity


How to cite this article:
Dwivedi T, Hungund B. Fryns syndrome: A rare case report with review of literature. J NTR Univ Health Sci 2018;7:147-53

How to cite this URL:
Dwivedi T, Hungund B. Fryns syndrome: A rare case report with review of literature. J NTR Univ Health Sci [serial online] 2018 [cited 2019 Aug 18];7:147-53. Available from: http://www.jdrntruhs.org/text.asp?2018/7/2/147/233839




  Introduction Top


Fryns syndrome is a rare autosomal recessive disorder. It was first described by Fryns et al. in 1979. The incidence of Fryns syndrome is 0.7–1 in 10000 births.[1] Congenital diaphragmatic hernia (CDH) is a cardinal feature of this syndrome. Other features of this syndrome include pulmonary hypoplasia, characteristic facial appearance, distal digital hypoplasia, and parental consanguinity. The associated systemic anomalies are renal dysplasia, renal cortical cysts, malformations involving the brain, cardiovascular system, gastrointestinal system, and genitalia.[1]

Here, we present a case of Fryns syndrome because of its rarity to describe its pathological features and to discuss the literature of this rare entity.


  Case Report Top


A 25-year-old primigravida in her 27th week of gestation presented to obstetrics department with an inability to perceive fetal movements since 1 day. History of consanguineous marriage was present. Antenatal ultrasound scan performed revealed polyhydramnios, intrauterine growth retardation, congenital anomaly of diaphragm, and absence of fetal heart sound. Based on ultrasound findings, clinical diagnosis of congenital diaphragmatic hernia was made, for which therapeutic abortion was performed and a still born fetus was delivered; the fetus was sent for postmortem study.

Autopsy findings

A fetus with attached umbilical cord along with placenta was received for autopsy study. Placenta weighed 75 g and measured 12 × 5.5 × 3 cm; the fetus weighed 200 g. Umbilical cord measured 20 cm and showed only two vessels. Head circumference, chest circumference, and abdominal girth were 17, 15, and 13, cm respectively. Crown rump and crown heel length was 16.5 and 28.5 cm, respectively.

External examination showed microcephaly, widely spaced protuberant eyes, broad and depressed nasal bridge, micrognathia, extra space between the nose and upper lip, large mouth, and, low set ears, and short forearm with camptodactyly. External genitalia were ambiguous [Figure 1].
Figure 1: (a and b) Fetus showing congenital diaphragmatic hernia (CDH) with herniation of intestine, liver into left side of thorax and left lung is hypoplastic (arrow). (c) showing CDH (part of liver intestine from defect), left hypoplastic lung(arrow), camptodactyly with umbilical cord showing two vessels. (d) showing amphigous genital (arrow)

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On dissection, it was found that the left part of the diaphragm was deficient, and the left lobe of the liver, spleen, and coils of the intestine had protruded through this deficiency in the thoracic cavity. Heart was pushed to the right side of the thoracic cavity, and the left lung was hypoplastic. The left lung weighed 2 g and measured 1.3 × 1× 0.3 cm; the right lung weighed 7 g and measured 3 × 2× 0.5 cm. Gross morphology of the heart, liver, spleen, and right and left kidneys appeared normal. Internally, female reproductive organs were found and appeared normal [Figure 1].

Microscopic examination revealed hypoplasia of the left lung. The microscopic features of the heart, liver, spleen, kidneys, and reproductive organs (uterus) showed normal features without any obvious pathology.

Based on above findings, i.e., dysmorphic facial features, hypoplasia of arm with camptodactyly, ambiguous genital organ, diaphragmatic hernia, and pulmonary hypoplasia, a diagnosis of Fryns syndrome was given. However, cytogenetics studies were not performed.


  Discussion Top


Fryns syndrome is a rare multiple anomaly congenital syndrome. Its incidence is 0.7 per 10000 births. It has autosomal recessive mode of inheritance.[1] [Table 1] lists studies of Fryns syndrome conducted till date.[2]
Table 1: Studies done by various authors till date

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Lin et al. described the six diagnostic criteria for Fryns syndrome which include [1]

  1. Parental consanguinity
  2. Diaphragmatic defect (which is a cardinal features)
  3. Pulmonary hypoplasia
  4. Characteristic facial appearance (coarse facies, ocular hypertelorism, microphthalmia, low-set, poorly formed ears, a broad and flat nasal bridge, thick nasal tip with anteverted nares, long philtrum, tented upper lip, macrostomia, and microretrognathia)
  5. Distal digital hypoplasia, mainly distal limb hypoplasia that includes short and broad hands, short digits, short terminal phalanges, hypoplastic or absent nails and clinodactyly
  6. Characteristic associated anomalies such as polyhydramnios, brain malformations, renal dysplasia, gastrointestinal system malformations, and genital malformations.


At least 4 out of 6 features should be present for making the diagnosis of Fryns syndrome. The present case showed all the diagnostic features (parental consanguinity, congenital diaphragmatic hernia, pulmonary hypoplasia, characteristic facial appearance, distal digital hypoplasia, and genital malformations).[1]

Congenital diaphragmatic hernia results from failure of complete closure of the pleuroperitoneal canal at the embryonic period of 8–10th gestational week. A total of 1.3–10% cases of Fryns syndrome have congenital diaphragmatic hernia, which is the cardinal feature for this syndrome.[3] Congenital diaphragmatic hernia occurs more often on the left hemithorax and the most common subtype is the posterolateral or Bochdalek type, which was also seen in the present case.[3] However, few authors have reported cases described as Fryns syndrome without congenital diaphragmatic hernia [Table 1].

No specific genetic cause responsible for Fryns syndrome has been reported. However, several chromosomal aberrations such as Mosaicism for a tandem duplication of chromosome 1q24-q31.2, ring chromosome 15, terminal deletion of chromosome 6 q, trisomy 22, and XO karyotype have been reported in literature.[1]

Diagnosis of Fryns syndrome is based mostly on clinical and pathological features. Prenatal diagnosis especially by three-dimensional ultrasonography and fetal magnetic resonance imaging with genetic studies done in the early weeks of pregnancy can be helpful in diagnosis this fatal syndrome. Genetic counseling should be considered for all those with a family history of the disease. Array comparative genomic hybridization (array CGH) can be useful in differentiating Fryns from other chromosomal condition with congenital diaphragmatic hernia.[2],[4]

Differential diagnosis includes various syndromes with overlapping features that need to be differentiated from Fryns syndrome, especially during autopsy for an accurate diagnosis [Table 2].[1],[4]
Table 2: Describing various overlapping syndromes with fryns syndrome and features to differentiate from fryns syndrome

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Prognosis of Fryns syndrome is usually poor and depends on malformations present. It has a high mortality rate. Patients without diaphragmatic defects have a better prognosis. Approximately 36.5% of fetuses die before 36 weeks of gestation, and 32.2% are born alive after 36 weeks but die within the first few days of life.[1]

Because Fryns syndrome is autosomal recessive inheritance, autopsy study of suspected cases will assist in counseling the parents about recurrence of the disease in subsequent pregnancies and advising regular antenatal ultrasound scan, fetal magnetic resonance imaging, and chromosomal studies in next pregnancy.

Declaration of patient consent

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

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Nirmaladevi M, Kurup S, Ajitha EV. Fryns Syndrome in Monozygotic Twins – A Case Report with Review of Literature. Int J Morphol 2012;30:56-60.  Back to cited text no. 1
    
2.
McKusick VA. Fryns Syndrome. 1986 Mar 06 [Updated 2016 Sep 28]. Available at http://www.omim.org/entry/229850. [Last accessed on 2016 Dec 15].  Back to cited text no. 2
    
3.
Roy M, Chikkannaiah P, Bali A. Congenital diaphragmatic hernia with hypoplastic lungs, heart, and additional anomalies: A case of Fryns syndrome. J Dr NTR Univ Health Sci 2013;2:130-2.  Back to cited text no. 3
    
4.
Slavotinek A. Fryns Syndrome. 2007 Apr 18 [Updated 2015 Jan 29]. Available https://www.ncbi.nlm.nih.gov/books/NBK1459/. [Last accessed on 2016 Dec 15].  Back to cited text no. 4
    


    Figures

  [Figure 1]
 
 
    Tables

  [Table 1], [Table 2]



 

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