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Journal of Indian Association of Pediatric Surgeons
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Year : 2021  |  Volume : 26  |  Issue : 3  |  Page : 206-207
 

VACTERL associated with a rare limb anomaly combined with edward (trisomy 18) syndrome


Department of Pediatric Surgery, Indira Gandhi Institute of Medical Sciences, Patna, Bihar, India

Date of Submission26-Jun-2020
Date of Decision18-Aug-2020
Date of Acceptance19-Oct-2020
Date of Web Publication17-May-2021

Correspondence Address:
Dr. Zaheer Hasan
D 6/2, Indira Gandhi Institute of Medical Science Campus, Sheikhpura, Patna - 800 014, Bihar
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jiaps.JIAPS_237_20

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   Abstract 


VACTERL association is a heterogeneous condition that includes at least three out of six core structural defects which occur together more commonly than would be expected by chance alone. We report a rare association of VACTERL with unilateral proximal focal femoral deficiency and trisomy 18 syndrome.


Keywords: Anorectal malformation, proximal focal femoral deficiency, trisomy 18, VACTERL


How to cite this article:
Hasan Z, Thakur VK, Chaubey D, Rahul SK, Kumar S. VACTERL associated with a rare limb anomaly combined with edward (trisomy 18) syndrome. J Indian Assoc Pediatr Surg 2021;26:206-7

How to cite this URL:
Hasan Z, Thakur VK, Chaubey D, Rahul SK, Kumar S. VACTERL associated with a rare limb anomaly combined with edward (trisomy 18) syndrome. J Indian Assoc Pediatr Surg [serial online] 2021 [cited 2021 Jun 22];26:206-7. Available from: https://www.jiaps.com/text.asp?2021/26/3/206/316006





   Introduction Top


VACTERL association is a heterogeneous condition that includes at least three out of six core structural defects (Vertebral, Anal, cardiac, Tracheo-esophageal fistula, Renal, and Limb anomalies) which occur together more commonly than would be expected by chance alone. Previously, VACTERL had been seen to be associated with trisomy 13, trisomy 21, Mullerian aplasia syndrome, and  Chiari malformation More Details. Khoury et al. were the first to report VACTERL association combined with trisomy 18 syndrome.[1] In 2014, Kim et al. reported a case of VACTERL association with meningomyelocele combined with trisomy 18 syndrome.[2] We report a case of VACTERL associated with unilateral proximal focal femoral deficiency (PFFD) and trisomy 18. This is a rare case of VACTERL combined with PFFD combined with trisomy of chromosome 18.


   Case Report Top


A 2-day-old male neonate weighing 2.8 kg born to a 38-year-old primigravida presented to us with absent anal opening and short right lower limb. He was born by spontaneous vaginal delivery. There was no significant history of antenatal insult to the baby. There was neither any history of maternal diabetes and consanguinity nor any history of major congenital anomaly in other family member. On examination, the patient had narrow eyelid folds, widely spaced eyes, and rocker bottom feet. The abdomen was asymmetrically distended toward the left side. The anus was absent, and midline perineal raphe were poorly developed. The right lower limb was short in comparison to the left. X-ray spine showed kyphoscoliosis and absent of the right femur bone and the distal segment of femur overriding the right iliac bone [Figure 1]a and [Figure 1]b. His routine blood investigations were within normal limits. Prone cross-table X-ray in lateral position revealed high-type anorectal malformation (ARM). Echocardiography showed atrial septal defect (osteum secundum 1.8 mm) which resolved in the subsequent visit. Ultrasound of the abdomen showed no abnormality. High sigmoid colostomy was done. The postoperative period was uneventful. High-resolution chromosome analysis showed Trypsin-Giemsa G-band (GTG) banding with 47 xy + 18 karyotype in proband [Figure 2]a and [Figure 2]b. Distal cologram done after 3 months showed high rectoprostatic fistula. Subsequently, abdomino-perineal pull through was done. The patient had perineal excoriation due to frequent fecal soiling which was managed by rectal wash and topical zinc oxide-based cream. The patient is now 2 year old and comes for regular follow-up. For the right lower limb anomaly, surgical treatment has been planned as resection of the proximal part of dysplastic femur and rotation arthroplasty of the residual limb along with femoropelvic arthrodesis by 3 years of age. The patient is presently under orthopedic rehabilitation for the lower limb.
Figure 1: (a) Deficiency of the right femur and hypoplasia of the right ilium, (b) arrow showing distal part of the femur overlapping the iliac bone

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Figure 2: (a) Clinical photograph of the patient, (b) picture of the chromosome analysis

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   Discussion Top


The term “VACTERL” describes a group of anomalies, which was first described by Quan and Smith initially as the acronym VATER and later it was expanded to VACTERL that included limb malformations. The incidence of VACTERL anomaly is approximately 1 in 10,000–1 in 40,000 live-born infants.

The VACTERL association is diverse in etiology, and various mutations in homeobox D13, phosphatase and tensin homolog, zic family member 3, and interstitial deletions of chromosome 17 (del (17) (q22q23.3) have been reported previously.[3] In our patient, the high-resolution GTC banding chromosomal analysis was reported to be normal other than trisomy 18. Approximately 50% of infants with trisomy 18 syndrome live <1 week, and approximately 5%–10% of infants survive beyond the 1st year, who are mostly mosaic trisomy or partial trisomy.[4]

Limb malformations have been reported in approximately 40%–50% of patients of VACTERL syndrome, mostly as preaxial. It includes a displaced or hypoplastic thumb, extra digits (polydactyly), fusion of digits (syndactyly), and forearm defects such as radial aplasia. The lower limb anomalies commonly seen in the patients of ARM are foot and toe anomalies and congenital hip dislocation. In 2005, Ratan et al. reported a case of VACTERL with right lower limb shortening due to PFFD with absent fibula.[5] This was contrary to the series of cases they had reported earlier. However, they were unable to carry out the chromosomal analysis as the baby succumbed to congestive cardiac failure. Our case had right lower limb shortening due to PFFD. The fibula was present. In addition, there was rocker bottom foot classically seen in Edward (trisomy 18) syndrome.

In conclusion, a patient of ARM with VACTERL associated with PFFD combined with trisomy 18 (Edward syndrome) has been described. Chromosomal analysis helps in elucidating the genetic abnormality in these cases and is imperative for genetic counseling.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
   References Top

1.
Khoury MJ, Cordero JF, Greenberg F, James LM, Erickson JD. A population study of the VACTERL association: Evidence for its etiologic heterogeneity. Pediatrics 1983;71:815-20.  Back to cited text no. 1
    
2.
Kim YK, Lee JH, Jeon GW, Sin JB. VACTERL association with meningomyelocele combined with trisomy 18 syndrome. Neonatal Med 2014;21:74-8.  Back to cited text no. 2
    
3.
Solomon BD, Bear KA, Kimonis V, de Klein A, Scott DA, Shaw-Smith C, et al. Clinical geneticists' views of VACTERL/VATER association. Am J Med Genet A 2012;158A: 3087-100.  Back to cited text no. 3
    
4.
Rasmussen SA, Wong LY, Yang Q, May KM, Friedman JM. Population-based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics 2003;111:777-84.  Back to cited text no. 4
    
5.
Ratan SK, Rattan KN, Ratan J, Sodhi PK, Bhatia V. A neonate with anorectal malformation with rare limb defects report of a case. Pediatr Surg Int 2005;21:825-8.  Back to cited text no. 5
    


    Figures

  [Figure 1], [Figure 2]



 

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