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Journal of Indian Association of Pediatric Surgeons
     Journal of Indian Association of Pediatric Surgeons
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Year : 2019  |  Volume : 24  |  Issue : 2  |  Page : 135-137

Anorectal malformation associated with klippel–Feil syndrome: A rare association

Department of Pediatric Surgery, King George's Medical University, Lucknow, Uttar Pradesh, India

Date of Web Publication1-Mar-2019

Correspondence Address:
Dr. Archika Gupta
Department of Pediatric Surgery, King George's Medical University, Lucknow, Uttar Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jiaps.JIAPS_161_17

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Anorectal malformations (ARMs) are a complex group of malformations associated with various congenital anomalies. Klippel–Feil syndrome (KFS) is characterized by fusion of cervical vertebrae, short neck, torticollis, and/or facial asymmetry and very rarely associated with ARM. In the presence of cervical vertebral anomalies in ARM, one should search for the presence of KFS as an association. If this anomaly is found to be associated, caution is needed during positioning for examination, surgery, during laryngoscopy, and intubation due to risk of neurological damage. We hereby present a very rare association of KFS with ARM with solitary kidney and ipsilateral vesicoureteral reflux.

Keywords: Anorectal malformation, Klippel–Feil syndrome, vertebral anomalies

How to cite this article:
Singh G, Gupta A, Verma AK, Pandey A, Kureel S N. Anorectal malformation associated with klippel–Feil syndrome: A rare association. J Indian Assoc Pediatr Surg 2019;24:135-7

How to cite this URL:
Singh G, Gupta A, Verma AK, Pandey A, Kureel S N. Anorectal malformation associated with klippel–Feil syndrome: A rare association. J Indian Assoc Pediatr Surg [serial online] 2019 [cited 2021 Mar 6];24:135-7. Available from: https://www.jiaps.com/text.asp?2019/24/2/135/253332

   Introduction Top

Anorectal malformations (ARMs) are a complex group of malformations with an incidence of 1:5000 live births and male–female ratio of 1.15:1.[1],[2] In 40%–70% cases of ARM, one or more additional congenital defects (ACDs) affecting other systems are also present. Most common ACDs found to be associated with ARM in different studies are urogenital tract anomalies (43%) followed by vertebral/spinal anomalies (16.67%–38.3%).[3] The level of associated vertebral/spinal anomalies in ARM is mostly at lumbosacral region followed by thoracic level with least common involvement of cervical vertebrae. The association of Klippel–Feil syndrome (KFS) that itself is an unusual vertebral/spinal malformation characterized by fusion of cervical vertebrae, short neck, torticollis, and/or facial asymmetry with ARM is extremely rare.[4]

We hereby report a very rare case of ARM who had completed all stages of ARM repair, associated with KFS and solitary kidney with ipsilateral vesicoureteral reflux (VUR).

   Case Report Top

A child was admitted in our department at day 2 of life with complaints of not passing stools and abdominal distension since birth without history of any meconuria or pneumaturia. On examination, anal opening was absent and the patient had short neck and low hairline. Cross-table prone lateral X-ray revealed high ARM [Figure 1]a. After baseline investigations and resuscitation, high sigmoid loop colostomy was performed at day 3 of life. As the child grew older, he developed left-sided Sprengel deformity, hypoplasia of left upper limb, and limited range of neck movement [Figure 2]a. With the presence of short-webbed neck, low hairline, limited cervical range of movement, and Sprengel anomaly, the child was suspected to have associated KFS. X-ray cervical spine revealed fused cervical vertebrae and cervical vertebrae segmental defects [Figure 2]b. Further evaluation for other associated anomalies with ultrasound (USG) abdomen revealed right-sided solitary kidney and two-dimensional echocardiogram revealed normal cardiac evaluation. Findings of USG were further confirmed by nuclear scan. Micturating cystourethrogram (MCU) revealed Grade-III VUR in right-sided solitary functioning kidney [Figure 1]b.
Figure 1: (a) Cross-table prone lateral X-ray revealed high anorectal malformation. (b) Micturating cystourethrogram revealed Grade-III vesicoureteral reflux in right-sided solitary functioning kidney

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Figure 2: (a) Left-sided Sprengel deformity, small winging scapula with the presence of short-webbed neck, low hairline. (b) X-ray cervical spine revealed fused cervical vertebrae, omovertebrae (right side), and cervical vertebrae segmental defects

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After evaluation, posterior sagittal anorectoplasty (PSARP) was performed as definitive procedure at the age of 1.5 years. Due to limited neck movement fiber-optic bronchoscope, laryngeal mask and preparation for tracheostomy were kept for backup in case of any difficulty during intubation. The patient was operated in prone position which required very careful handling and stabilization of the cervical spine to prevent any inadvertent neurological damage.

As the baby grew, he had difficulty in hearing which was confirmed by brainstem evoked response audiometry which showed bilateral sensorineural hearing loss. Final stage of colostomy closure was performed at the age of 3 years along with Sting's procedure in view of solitary kidney with VUR. The patient is doing well in follow-up with stool frequency of 2–3 times per day with semisolid consistency and regular pattern.

   Discussion Top

ARM is an embryological complex of defects resulting from the failure of terminal hindgut to develop and the incomplete division of the cloaca by the urorectal septum, which separates the ventral urogenital sinus from the dorsal anorectal canal, during 4th–7th weeks of embryological life.[1] Therefore, additional congenital anomalies are present in 40%–70% patients with ARM with some of these anomalies accounting for the high morbidity and mortality associated with ARM.[3]

Most common association of anomalies present in ARM is VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities) association that is a spectrum of associated defects designating vertebral defects, anal atresia, cardiac anomalies, tracheoesophageal fistula with esophageal atresia, renal defects, and radial limb dysplasia and other limb defects.[3]

Vertebral/spinal anomalies are associated with ARM in 16.67%–38.3% of cases.[4],[5] Vertebral anomalies most commonly involve sacral vertebrae and cervical vertebra least commonly and range in severity from mild form of sacral dysplasia to varying severity of actual segmental agenesis.[6] However, association of KFS and ARM is not seen commonly. KFS was first described in 1912 and is characterized by the presence of limited mobility of neck movement due to fused cervical vertebrae because of failure of segmentation of two more cervical vertebral bodies, short neck, low hairline, and/or facial asymmetry.

Exact incidence of association of KFS with ARM is not known with only three cases out of total 264 cases of ARM in a large series.[4] All these cases of KFS associated with ARM reported in this study and one another study were female,[4],[7] while we report the association of KFS in male patient of ARM. To the best of our knowledge, there has been no report of KFS associated with male ARM in the literature.

Exact etiology of association of KFS with ARM is not known, but it might occur due to disruption of normal mesodermal development during embryological life that can result in failure of segmentation of cervical vertebrae in addition to failure of development of terminal hindgut and in the complete division of cloaca by urorectal septum.[8.9]

In the presence of cervical vertebral anomalies in a case of ARM, one must look for the presence of KFS. A clinician should do detailed evaluation of these patients to find characteristics of KFS and other associated anomalies. ARM and KFS can also be associated with skeletal, cardiovascular, genitourinary, central nervous system, and gastrointestinal anomalies.[8] However, in KFS, skeletal anomalies such as scoliosis, Sprengel anomaly, omovertebral bone, and craniolacunia are most commonly associated followed by genitourinary anomalies in contrast to ARM where genitourinary anomalies are most commonly associated.[7] Sprengel deformity is a congenital condition with a small and undescended scapula often associated with scapular winging and hypoplasia omovertebral connection between superior medial angle of scapula and cervical spine (30%–50%).[10]

In addition, KFS can also be associated with abnormalities of respiratory and/or auditory system.[11] Otological abnormalities range from nonspecific external ear abnormalities to severe developmental anomalies of the cochlea. External ear anomalies include narrow external auditory meatus, preauricular skin tags, and small ears. The inner ear changes include absent vestibules and semicircular canals and cochlear abnormalities.[12]

In our patient, we found short-webbed neck, low hairline, limited range of cervical mobility, and Sprengel anomaly; we suspected the child to have associated KFS and this was confirmed by the presence of fused cervical vertebrae on X-ray cervical spine along with sensorineural hearing loss.

Although there is no special cure for KFS, prognosis is not grave. However, care of patients with KFS can be difficult. One should be cautious during laryngoscopy, intubation, and positioning for surgery, especially during PSARP and examination in these patients, as these patients can be at risk for neurological damage due to limited range of cervical movement and vertebral instability even with trivial injury.

   Conclusion Top

In a patient of ARM, if cervical vertebral anomaly is present, a possibility of KFS should be kept in mind warranting further evaluation for associated anomalies. If diagnosed to be associated, precaution should be taken during positioning for surgery, particularly during PSARP and during examination, and in postoperative care of these children to avoid any neurological damage.

Declaration of patient consent

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

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Conflicts of interest

There are no conflicts of interest.

   References Top

Alford BA, Mcllhenney J. The newborn and young infant. In: Grainger RG, Allison D, editors. Grainger and Allison's Diagnostic Radiology: A Textbook of Medical Imaging. 3rd ed. New York: Churchill Livingstone; 1997. p. 1114-88.  Back to cited text no. 1
Freeney PC, Stevenson GW. Pediatric large bowel. In: Margulis AR, Burhenne HJ, editors. Alimentary Tract Radiology. 5th ed. Philadelphia: Mosby; 1994. p. 1909-12.  Back to cited text no. 2
Metts JC 3rd, Kotkin L, Kasper S, Shyr Y, Adams MC, Brock JW 3rd, et al. Genital malformations and coexistent urinary tract or spinal anomalies in patients with imperforate anus. J Urol 1997;158:1298-300.  Back to cited text no. 3
Hassink EA, Rieu PN, Hamel BC, Severijnen RS, vd Staak FH, Festen C, et al. Additional congenital defects in anorectal malformations. Eur J Pediatr 1996;155:477-82.  Back to cited text no. 4
Mirshemirani A, Ghoroubi J, Kouranloo J, Sadeghiyan N. Spinal and vertebral anomalies associated with anorectal malformations. Iran J Child Neurol 2008;2:51-4.  Back to cited text no. 5
Mittal A, Airon RK, Magu S, Rattan KN, Ratan KS. Associated anomalies with anorectal malformation. Indian J Pediatr 2004;21:509-14.  Back to cited text no. 6
Herman TE, Siegel MJ, Vachharajani A. Klippel Feil syndrome with occipital encephalocele, duodenal web, left pelvic kidney, ASD, anorectal malformation fetal and postnatal imaging. J Perinatol 2013;33:245-7.  Back to cited text no. 7
Nora JJ. Klippel-Feil syndrome with congenital heart disease. Am J Dis Child 1961;102:858-64.  Back to cited text no. 8
Russell LJ, Weaver DD, Bull MJ. The axial mesodermal dysplasia spectrum. Pediatrics 1981;67:176-82.  Back to cited text no. 9
Samartzis D, Herman J, Lubicky JP, Shen FH. Sprengel's deformity in Klippel-Feil syndrome. Spine (Phila Pa 1976) 2007;32:E512-6.  Back to cited text no. 10
Gupta SN, Piatt JH Jr., Belay B. Cervical spinal cord neurapraxia in the setting of Klippel-Feil anomaly: A diagnostic and therapeutic challenge. Spinal Cord 2007;45:637-40.  Back to cited text no. 11
McGaughran JM, Kuna P, Das V. Audiological abnormalities in the Klippel-Feil syndrome. Arch Dis Child 1998;79:352-5.  Back to cited text no. 12


  [Figure 1], [Figure 2]


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