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Case Report
Revised

Case Report: Gollop-Wolfgang Complex in a 5 month old baby

[version 3; peer review: 2 approved, 1 approved with reservations]
PUBLISHED 24 Feb 2015
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This article is included in the Rare diseases collection.

Abstract

Skeletal dysplasias are disorders associated with a generalized abnormality in the skeleton. The Gollop-Wolfgang complex (GWC) is a limb deficiency disorder and an unusual limb malformation with highly variable manifestations. Here we report an interesting case of a 5-month old male baby from India with Gollop-Wolfgang Complex showing bifurcation of the right femur, ectrodactyly of both feet, ectrodactyly of left hand, syndactyly of right hand and unusual presentation of bilateral fibular agenesis and caudal (Sacrococcygeal) agenesis. The etiology of GWC in this 5 month old male baby could possibly be attributed to spontaneous gene mutation. The clinical, radiographic findings and the unusual presentation are presented in detail.

Keywords

Skeletal dysplasias, Gollop-Wolfgang complex, limb deficiency

Revised Amendments from Version 2

Based on the comments by Dr. Nicole Philip I have made changes to my previous version.

See the authors' detailed response to the review by Stephen Robertson

Introduction

Generalized disorders of cartilage and bone have been referred to as skeletal dysplasias and are associated with a generalized abnormality in the skeleton1. Gollop-Wolfgang Complex (GWC) is a rare congenital limb anomaly characterized by tibial aplasia, ipsilateral bifurcation of the thighbone and ectrodactyly2. Ectrodactyly involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split hand/split foot malformation (SHFM)3. Very often, the anomalies of limbs, heart, digestive and urinary tracts and the lumbosacral vertebrae are also affected4.

In 1980, Gollop et al. described the case two brothers with ectrodactyly and unilateral bifurcation of the femur, absence of both tibiae and monodactyly of the feet5. In 1984, Wolfgang reported a case of right femoral bifurcation and absence of tibia and bilateral central defects of the hand5. Lurie and Ilyina (1986) proposed the eponym GWC for the combination of femoral bifurcation with hand ectrodactyly6. Endo et al. found a total of 12 reported cases and added the case of a Japanese girl with a unique form of this malformation complex. Both hands and feet were involved and the involvement was bilateral2. The etiology of GWC is most likely an error in the complex genetic control of limb development but the exact cause is still unclear7. GWC is listed as a “rare disease” by the United States Office of Rare Diseases [ORD] of the National Institute of Health [NIH] and the approximate incidence is 1 in 1000,0008.

Case presentation

A 5-month old male Indian child with normal karyotype (46 XY) born to a 26-year-old primigravida, full term by C-section, presented with limb deformities associated with bilateral ectrodactyly of feet (Figure 1 and Figure 2), syndactyly of right hand (Figure 3) and ectrodactyly of left hand (Figure 4). At the medial distal third of the right femur, a large protrusion was present (Figure 1 and Figure 5). Radiographic images showed bifid femur with fibular agenesis (Figure 6), absence of right 3, 4, 5 metatarsals and phalanges, absence of left 4, 5 metatarsals and phalanges of foot (Figure 7), left lateral X-ray showing caudal (sacrococcygeal) agenesis (Figure 8). Initial diagnosis was made when the parents brought the child to the out-patient department concerned about limb abnormality at the age of 3 months and the final diagnosis was made following admission to the in-patient unit at 5 months, based on both clinical presentation and radiological images. There was no detailed prenatal history available.

6eb8cea4-b792-4764-90df-e8ae01320988_figure1.gif

Figure 1. Limb deformities.

6eb8cea4-b792-4764-90df-e8ae01320988_figure2.gif

Figure 2. Ectrodactyly of toes.

6eb8cea4-b792-4764-90df-e8ae01320988_figure3.gif

Figure 3. X-ray right hand showing syndactyly.

6eb8cea4-b792-4764-90df-e8ae01320988_figure4.gif

Figure 4. X-ray of left hand showing ectrodactyly.

6eb8cea4-b792-4764-90df-e8ae01320988_figure5.gif

Figure 5. Protrusion over right thigh.

6eb8cea4-b792-4764-90df-e8ae01320988_figure6.gif

Figure 6. X-ray showing bifid femur with fibular agenesis.

6eb8cea4-b792-4764-90df-e8ae01320988_figure7.gif

Figure 7. X-ray showing absence of right 3,4,5 metatarsals and phalanges, absence of left 4,5 metatarsals and phalanges.

6eb8cea4-b792-4764-90df-e8ae01320988_figure8.gif

Figure 8. X-ray showing caudal (sacrococcygeal) agenesis.

The parents had documented second degree consanguinity but both did not have any significant family history. Similarly, there was no history of exposure to radiation, prenatal teratogenic medications and infections during pregnancy. The mother did not smoke or drink during pregnancy. The child was breast-fed with good appetite and cry, without any bowel bladder problems, change in skin color or any cleft lip/palate. Echocardiography at the time of admittance revealed no congenital heart defects. The ultrasonography of abdomen and pelvis revealed no visceral or renal abnormalities. Surgical reconstruction treatment was advised but the parents did not give consent for treatment.

Discussion

One case was reported of an Arab Muslim couple who came from a region where other consanguineous families with similarly affected individuals had been reported Kohn et al. in 19899, and the autosomal recessive inheritance seemed evident in the case of a child described by Raas-Rothschild et al. in 199910. In this case, we report a typical presentation of GWC with bilateral fibular agenesis and sacrococcygeal agenesis along with pathognomonic features of GWC (bifurcation of femur, syndactyly and ectrodactyly). There were no associated abnormalities like cleft lip/palate, tibial agenesis, visceral or cardiac anomalies seen in this patient. There is one documented case reported with distal femoral duplication with fibular agenesis11. The best treatment option for this patient with GWC is early knee disarticulation and resection of the protruded bifurcated femur, followed by fitting of a modern prosthesis12. This treatment was discussed with the parents of the patient at three months of age and a follow-up visit was scheduled after two months.

History of consanguinity is strongly associated with the developments of congenital anomalies among the newborn babies; there should be pre-marital genetic counselling to evaluate any impending congenital abnormalities. Similarly, antenatal check-ups are appropriate for early detection of congenital anomalies through proper screening.

Consent

Informed written consent for publication of images and clinical details was obtained from the patient’s parents.

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Version 3
VERSION 3 PUBLISHED 23 Dec 2014
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Qureshi IA, Gudepu RK, Chava R et al. Case Report: Gollop-Wolfgang Complex in a 5 month old baby [version 3; peer review: 2 approved, 1 approved with reservations]. F1000Research 2015, 3:315 (https://doi.org/10.12688/f1000research.5889.3)
NOTE: If applicable, it is important to ensure the information in square brackets after the title is included in all citations of this article.
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Key to Reviewer Statuses VIEW
ApprovedThe paper is scientifically sound in its current form and only minor, if any, improvements are suggested
Approved with reservations A number of small changes, sometimes more significant revisions are required to address specific details and improve the papers academic merit.
Not approvedFundamental flaws in the paper seriously undermine the findings and conclusions
Version 3
VERSION 3
PUBLISHED 24 Feb 2015
Revised
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Reviewer Report 19 May 2015
Murat Bastepe, Endocrine Unit, Massachusetts General Hospital, Boston, MA, 02114, USA 
Qing He, Endocrine Unit, Massachusetts General Hospital, Boston, MA, USA 
Approved
VIEWS 16
This report describes a 5-month-old patient with rare Gollop-Wolfgang Complex (GWC) disorder.  The patient exhibits typical phenotypes of GWC disease, such as ectrodactylyl of the hand and bifurcation of the femur.
The etiology of GWC remains unknown. However, the patient’s parents are ... Continue reading
CITE
CITE
HOW TO CITE THIS REPORT
Bastepe M and He Q. Reviewer Report For: Case Report: Gollop-Wolfgang Complex in a 5 month old baby [version 3; peer review: 2 approved, 1 approved with reservations]. F1000Research 2015, 3:315 (https://doi.org/10.5256/f1000research.6622.r8336)
NOTE: it is important to ensure the information in square brackets after the title is included in all citations of this article.
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15
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Reviewer Report 30 Mar 2015
Nicole Philip, Département de Génétique Médicale et de Biologie Cellulaire, Assistance Publique - Hopitaux de Marseille, Marseille, France 
Approved
VIEWS 15
I confirm that I have read this submission and believe that I have an ... Continue reading
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CITE
HOW TO CITE THIS REPORT
Philip N. Reviewer Report For: Case Report: Gollop-Wolfgang Complex in a 5 month old baby [version 3; peer review: 2 approved, 1 approved with reservations]. F1000Research 2015, 3:315 (https://doi.org/10.5256/f1000research.6622.r8149)
NOTE: it is important to ensure the information in square brackets after the title is included in all citations of this article.
Version 2
VERSION 2
PUBLISHED 09 Feb 2015
Revised
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Reviewer Report 13 Feb 2015
Nicole Philip, Département de Génétique Médicale et de Biologie Cellulaire, Assistance Publique - Hopitaux de Marseille, Marseille, France 
Approved
VIEWS 25
I fully agree with the first reviewers's comments.

This paper deserves indexing as it is a very rare disorder. However, the following sentence (in the discussion) should be deleted:

"This type of skeletal dysplasia with limb deficiencies could be the result of spontaneous ... Continue reading
CITE
CITE
HOW TO CITE THIS REPORT
Philip N. Reviewer Report For: Case Report: Gollop-Wolfgang Complex in a 5 month old baby [version 3; peer review: 2 approved, 1 approved with reservations]. F1000Research 2015, 3:315 (https://doi.org/10.5256/f1000research.6552.r7661)
NOTE: it is important to ensure the information in square brackets after the title is included in all citations of this article.
Version 1
VERSION 1
PUBLISHED 23 Dec 2014
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57
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Reviewer Report 27 Jan 2015
Stephen Robertson, Department of Genetics, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand 
Approved with Reservations
VIEWS 57
This report describes a child with a typical presentation of Wolfgang-Gollop complex. The eitiology of this condition is still in doubt although some familial recurrences suggest a genetic cause. The statement in the abstract that a spontaneous mutation is possible ... Continue reading
CITE
CITE
HOW TO CITE THIS REPORT
Robertson S. Reviewer Report For: Case Report: Gollop-Wolfgang Complex in a 5 month old baby [version 3; peer review: 2 approved, 1 approved with reservations]. F1000Research 2015, 3:315 (https://doi.org/10.5256/f1000research.6291.r7449)
NOTE: it is important to ensure the information in square brackets after the title is included in all citations of this article.
  • Author Response 09 Feb 2015
    aatif qureshi
    09 Feb 2015
    Author Response
    Really appreciate your comments Dr. Stephen Robertson. I would like to hear back about my newer version of the paper.
    Competing Interests: No competing interests were disclosed.
COMMENTS ON THIS REPORT
  • Author Response 09 Feb 2015
    aatif qureshi
    09 Feb 2015
    Author Response
    Really appreciate your comments Dr. Stephen Robertson. I would like to hear back about my newer version of the paper.
    Competing Interests: No competing interests were disclosed.

Comments on this article Comments (0)

Version 3
VERSION 3 PUBLISHED 23 Dec 2014
Comment
Alongside their report, reviewers assign a status to the article:
Approved - the paper is scientifically sound in its current form and only minor, if any, improvements are suggested
Approved with reservations - A number of small changes, sometimes more significant revisions are required to address specific details and improve the papers academic merit.
Not approved - fundamental flaws in the paper seriously undermine the findings and conclusions
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