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CASE REPORT
Ahead of print publication  

Complete agenesis of tibia with bilateral bifid femurs in a neonate - A rare variant of Gollop-Wolfgang complex


1 Department of Neonatology, PGIMS, Rohtak, Haryana, India
2 Department of Pediatrics, PGIMS, Rohtak, Haryana, India
3 Department of Pediatrics, All India Institute of Medical Sciences, Bilaspur, Himachal Pradesh, India
4 Department of Obstetrics and Gynaecology, PGIMS, Rohtak, Haryana, India

Date of Submission18-May-2021
Date of Decision02-Jul-2021
Date of Acceptance06-Jul-2021

Correspondence Address:
Jagjit Singh Dalal,
Department of Neonatology, PGIMS, Rohtak - 124 001, Haryana
India
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/mjdrdypu.mjdrdypu_369_21

  Abstract 


Gollop-Wolfgang complex (GWC) is a rare musculoskeletal anomaly consisting of unilateral femur bifurcation, ipsilateral tibial agenesis, and ectrodactyly. Only very few authors have reported GWC in neonates and mostly with the involvement of unilateral lower limb. Herein, we report a very rare case of neonate having bilateral femoral bifurcation and bilateral tibial agenesis with intact fibula.

Keywords: Gollop-Wolfgang complex, hemimelia, neonate



How to cite this URL:
Dalal JS, Chhari P, Dayanand SJ, Singh J, Dalal M. Complete agenesis of tibia with bilateral bifid femurs in a neonate - A rare variant of Gollop-Wolfgang complex. Med J DY Patil Vidyapeeth [Epub ahead of print] [cited 2022 Dec 7]. Available from: https://www.mjdrdypv.org/preprintarticle.asp?id=336820




  Introduction Top


Gollop-Wolfgang complex (GWC) term was described by Lurie and Ilyina in 1986 in a 3-month girl having musculoskeletal anomalies.[1] Besides isolated presentation of GWC, most of the time, congenital malformations of limbs, heart, digestive and urinary tract, and the lumbosacral vertebrae may be observed.[2] Exact underlying etiology of GWC is still unclear; an association with maternal use of anti-epileptic drug (carbamazepine) had been noticed.[3] Although autosomal dominant pattern of inheritance is most commonly observed, autosomal recessive and X-linked inheritance patterns are also postulated.[4] Surgical reconstructive procedures along with the use of prostheses are the main treatment modality.[5] Herein, we report a neonate who presented with bilateral femoral bifurcation with bilateral tibial hemimelia with the intact fibula.


  Case Report Top


A late preterm 35 weeks gestation male baby with birth weight of 1490 g was born by cesarean section. The cesarean section was performed in view of the history of previous cesarean section and breech presentation in labor. The baby was born of a nonconsanguineous marriage with an uneventful prenatal period and no history of congenital malformation in previous siblings. His mother was having no history of intake of any teratogenic drugs, alcohol consumption or smoking and no history of diabetes or infection, radiation exposure, and hypertension during pregnancy. Prenatal ultrasound screening was not available. The APGAR score was 7 and 9 at 1 and 5 min, respectively. The physical examination revealed the following abnormalities: The distal end of the bilateral thigh was widened with triangular appearance; palpation revealed bifid distal part of the femur [Figure 1]. The terminal portion of the medial branch of bifid femur was easily felt under the skin. The lateral branch of bifid femur articulated with a fibula suggesting some form of the knee joint with absent patella. There was a 120° knee flexion contracture with 30° painless range of motion and lack of active extension. Bilateral legs were shortened with a medial curvature and an equinovarus deformity of the foot. The bilateral hip joint was normal. He had active knee extension with full range of motion. Radiographs revealed bilateral distal bifid femur with the complete absence of bilateral tibia [Figure 2]. Both upper limbs were normal. Based on these findings, diagnosis of bilateral GWC was considered. Neonate was admitted to the Neonatal Intensive Care Unit in view of mild respiratory distress and vitals monitoring. Baby was small for gestational age and random blood sugar was monitored for initial 72 h; baby remained euglycemic. The baby was managed with oxygen supplementation, intravenous fluid, and expressed breast milk. Detailed systemic examination along with echocardiography and ultrasound did not reveal any visceral or congenital cardiac malformations. The parents were counseled regarding their baby's deformity and treatment plan. The parents were also counseled about advanced diagnostic tests such as whole genome sequencing, but could not be performed due to financial constraints of family. The baby was discharged and presently attending regular follow by multidisciplinary team consisting of pediatrics, orthopedics, and rehabilitation department with a plan to perform surgery later on. Prior consent was obtained from parents of the patient for publication of this case.
Figure 1: Bilateral bifid femur on gross examination

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Figure 2: Radiograph showing bilateral bifurcation of femur and tibial hemimelia

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  Discussion Top


GWC is a very rare congenital anomaly with reported incidence of 1 per million live births.[5] The two conditions, i.e., congenital absence of tibia with the ipsilateral bifid femur and tibial hemimelia may occur independently in isolation but more usually, they co-exist and are accompanied by other congenital anomalies of the limbs or other organs.[6] During embryogenesis, tibial and fibular developmental fields govern normal growth of the lower limb.[7] The tibial developmental field controls the development of the distal femur, tibia and hallux, any abnormality in this field will result in distal femur bifurcation, tibia hemimelia, and preaxial polydactyly or ectrodactyly. On the other hand, the fibular developmental field controls the formation of the fibula, lateral rays of the foot, lateral knee ligaments, proximal femur, acetabulum, and pubic bones. Abnormality in this field results in fibular hypoplasia, ectrodactyly, proximal focal femoral deficiency, and deficiency of lateral knee ligament. In the index case, the association of bilateral tibia developmental field defect with bilateral bifid femur and tibia hemimelia support above hypothesis.

In previous reports,[3],[4],[8],[9],[10],[11],[12],[13],[14] the most common presentation of GWC in neonates was the involvement of unilateral limb and only one case we could find as reported by Endo et al.[14] in the neonate, who reported bilateral agenesis of the tibia with the bilateral bifid femur, similar to our case [Table 1]. The index case was very rare because of the bilateral bifid femur with bilateral tibia hemimelia. Approximately 13,000 births take place at our center every year, with an incidence described above; it will take around 80 years to come across one case of GWC. Surgical corrective procedures consisting of early knee disarticulation with resection of bifid femur along with appropriate prosthesis is the treatment of choice.[6] Surgery is planned according to extent of tibial aplasia and the presence or absence of extensor mechanism involved lower limb. GWC can have variable spectrum of musculoskeletal malformations such as tibial aplasia, distal femoral duplication, toe anomalies, preaxial polydactyly, and occasional hand ectrodactyly. Bilateral tibial hemimelia can be associated with Werner syndrome, chromosome 8q deletion,  Langer-Giedion syndrome More Details, or type II tricho-rhino-phalangeal syndrome II.[15] Advanced diagnostic interventions whole genome, whole exome, and next-generation sequencing studies may be remarkably helpful in diagnosing the underlying genetic errors as compared to conventional karyotyping.[4] Although life span remains normal in GWC but if no treatment is taken, then the functional prognosis is poor. Furthermore, it is important to recognize these complex congenital malformations in the prenatal period to help parents in decision-making for the continuation of pregnancy as well as childbirth at tertiary care center.
Table 1: Clinical presentation of neonates with Gollop-Wolfgang complex

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In conclusion, a multidisciplinary approach is required for the management of GWC patients. Antenatal detection, delivery at tertiary care center, counseling of the parents, and regular follow-up of the patient is essential to achieve better results in this malformation.

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 patient identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Lurie IW, Ilyina HG. Gollop-Wolfgang complex in a 3-month-old girl. Am J Med Genet Suppl 1986;2:191-4.  Back to cited text no. 1
    
2.
Erickson RP. Agenesis of tibia with bifid femur, congenital heart disease, and cleft lip with cleft palate or tracheoesophageal fistula: Possible variants of Gollop-Wolfgang complex. Am J Med Genet A 2005;134:315-7.  Back to cited text no. 2
    
3.
Muzaffar N. Tibial agenesis and Gollop-Wolfgang complex in three siblings born to an epileptic woman treated with carbamazepine: Teratogenicity? Genetics 2013;2:118.  Back to cited text no. 3
    
4.
Biswas SN, Biswas S, Chakraborty PP. Gollop Wolfgang complex: Can it be a teratogenic condition? Indian J Pediatr 2016;83:1051-3.  Back to cited text no. 4
    
5.
Albright P, Veenstra J, Habeck J, Bovid K. Lower extremity surgical treatment to improve function in a patient with Gollop-Wolfgang complex: A case report. JBJS Case Connect 2019;9:e0254.  Back to cited text no. 5
    
6.
Wolfgang GL. Complex congenital anomalies of the lower extremities: Femoral bifurcation, tibial hemimelia, and diastasis of the ankle. Case report and review of the literature. J Bone Joint Surg Am 1984;66:453-8.  Back to cited text no. 6
    
7.
Lewin SO, Opitz JM. Fibular a/hypoplasia: Review and documentation of the fibular developmental field. Am J Med Genet Suppl 1986;2:215-38.  Back to cited text no. 7
    
8.
Habou O, Magagi IA, Adamou H. Gollop-Wolfgang Complex. J Neonatal Surg 2017;6:19.  Back to cited text no. 8
    
9.
Caforio L, Pagnotta G, Romiti A, Familiari A, Donati F, Bagolan P. Prenatal diagnosis of Gollop-Wolfgang complex. Ultrasound Obstet Gynecol 2015;45:488-90.  Back to cited text no. 9
    
10.
Bos CF, Taminiau AH. A 5-year follow-up study after knee disarticulation in two cases of Gollop-Wolfgang complex. J Pediatr Orthop B 2007;16:409-13.  Back to cited text no. 10
    
11.
Raas-Rothschild A, Nir A, Ergaz Z, Bar Ziv J, Rein AJ. Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities. Am J Med Genet 1999;84:361-4.  Back to cited text no. 11
    
12.
Gollop TR, Lucchesi E, Martins RM, Nione AS. Familial occurrence of bifid femur and monodactylous ectrodactyly. Am J Med Genet 1980;7:319-22.  Back to cited text no. 12
    
13.
Hapani R, Shastri M. A rare case of limb deficiency syndrome: Gollop Wolfgang syndrome. Radiol Case Rep 2021;16:2053-5.  Back to cited text no. 13
    
14.
Endo A, Watanabe K, Shimada M, Minato M, Takada M, Takahashi S, et al. Bilateral involvement of hands and legs in the Gollop-Wolfgang complex. Am J Med Genet 1998;80:529-30.  Back to cited text no. 14
    
15.
Stevens CA, Moore CA. Tibial hemimelia in Langer-Giedion syndrome-possible gene location for tibial hemimelia at 8q. Am J Med Genet 1999;85:409-12.  Back to cited text no. 15
    


    Figures

  [Figure 1], [Figure 2]
 
 
    Tables

  [Table 1]



 

 
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