DEMOGRAPHIC CHARACTERISTICS OF CHILDREN WITH CONGENITAL LIMB DEFICIENCY: RETROSPECTIVE STUDY

Objective: to determine the demographic characteristics, types, levels of congenital limb loss, etiological factors, prosthetic fitting in children with congenital limb deficiencies and to compare it with other studies.
 
Methods: Patients with congenital limb deficiencies attended the prosthetic rehabilitation clinic at the Royal Rehabilitation Centre/ King Hussein Medical Centre/ Royal Medical Services in Jordan between January 1988 and January 2006 were reviewed, and the demographic characteristics were analyzed.

 Results: 143 children with limb deficiency were reviewed. 62 (43.4%) were males and 81(56.6%) were females, with males to females ratio 1:1.3. The mean age at the first visit to the clinic was 7.15 years. The total number of limb deficiencies involved was 170 limbs of which 95 were upper limb and 75 were lower limb deficiencies. 91 limbs were right sided and 79 limbs were left sided deficiency. The transverse limb deficiency was more than longitudinal limb deficiency, 112 and 58 respectively. The most common deficiency was the transverse forearm partial deficiency (below elbow) followed by transverse forearm total deficiency (elbow disarticulation) in the upper limbs. The longitudinal femoral partial deficiency followed by transverse leg partial deficiency (below knee) was the commonest in the lower limb. 107(75%) children were fitted with prostheses. No definitive cause for the limb deficiency in children was found.

Conclusion: This study as the first in the country concerned with congenital limb deficiency form a baseline for further new studies. It helps in future planning management and future planning of material, facilities, budget needs for children with limb deficiency.

Key words: Children, Congenital, Limb deficiency.

JRMS August 2008; 15(2): 28-33


Introduction

Limb deficiencies in children may be due to congenital disorders or acquired amputations. Congenital limb deficiency means partial or total absence of one or more skeletal elements of the limb at birth. The congenital limb anomalies are classified as being either transverse, in which all the skeletal elements distal to the level loss are absent as in acquired amputation or longitudinal in which some distal skeletal elements remain.(1-6)
 
Table I. The mean age and sex of children with congenital limb deficiency

Number of  children	Mean age	Male	%	Mean age	Female	%	Mean age	Number of limb deficiencies
143	7.15	62	43.4	6.3	81	56.6	7.9	170

Table II. Characteristics of children with congenital limb deficiencie

Type of deficiency	Number of patients	Male	Female	Upper limb	Lower limb	Right side	Left side	Transverse deficiency	Longitudinal deficiency	No. of  limb deficiencies
Unilateral limb deficiency	124	52	72	67	57	69	55	70	54	124
Multiple limb deficiency	19	10	9	28	18	22	24	42	4	46
total	143	62	81	95	75	91	79		58	170

The etiology of most children with congenital limb deficiencies is unknown.(2,5,7-11)
The incidence of congenital limb deficiencies in children has been variously reported.(2,3,11-13) Some reported that about all children with congenital limb deficiencies were fitted with prostheses, but not all use their prostheses in activity of daily living (ADL).(3,4,6)

The aim of this study is to determine the demographic characteristics, types, levels of congenital limb loss, etiological factors, prosthetic fitting in children with limb deficiencies, and to compare it with other studies.


Methods

The medical records of all patients who suffered of upper and lower limb amputations due to different causes and attended the prosthetic rehabilitation clinic at Royal Rehabilitation Center (RRC), King Hussein Medical Centre (KHMC), Royal Medical Services (RMS) in Jordan, between January 1988 and January 2006 were reviewed.

The medical records of patients with congenital limb deficiency were analyzed and the following data were obtained. Demographic data such as age of the child at the first visit of the clinic and gender.

Type of the defect of the upper and lower limb, in accordance with the classification of the international standard, ISO 8548-1:1989.(1)  The predicted etiology of the limb loss.   If the child with limb deficiency was fitted with prosthesis or not.

The collected data were entered on a PC and analyzed using standard SPSS statistical program version 11, software. Descriptive statistics were applied.


Results

We analyzed 143 children with limb deficiency from a total number of 2393 amputees who visited the prosthetic rehabilitation clinic, making the incidence of 60 per thousand amputees. Females were more than males, 81(56.6%), 62(43.4%) respectively, with male to female ratio of 1.3:1.
The mean age of children at the first visit to the clinic was 7, 15 years ranging between 6 months to 15 years. The boys presented earlier to the clinic than girls. The boys mean age was 6.3 years and the girl's was 7.9 years.  Table I presents the mean age and sex of children with congenital limb deficiency.

Most children (124) were with unilateral limb deficiency, the majority of them were with upper limb involvement (95), and the most common deficiency was the transverse type (112), Table II presents the characteristics of the congenital limb deficiencies.
 
In the unilateral upper limb transverse deficiencies, the forearm partial (below elbow) deficiency (24) was the most common, followed by the carpal total (wrist disarticulation) deficiency.(14) Table III presents the levels of unilateral congenital transverse upper limb deficiency.

In the unilateral upper limb longitudinal type deficiencies, the metacarpophalangeal (Ray) deficiency (8) was the most common; Table IV presents the levels of unilateral congenital longitudinal upper limb deficiencies.

Table III. Levels of unilateral congenital transverse upper limb deficiency

Level	Number of patients	Male	Female	Right	Left	No. of patients fitted with prosthesis
Arm total (shoulder disarticulation)	1	0	1	0	1	0
Arm partial (above elbow)	2	1	1	1	1	2
Forearm total (elbow disarticulation)	4	2	2	3	1	3
Forearm partial(below elbow)	24	9	15	10	14	20
Carpal total (wrist disarticulation)	14	7	7	6	8	11
Metacarpal phalangeal partial + total	11	5	6	5	6	6
Total	56	24	32	25	31	42 (75%)

Table IV.  Levels of unilateral congenital longitudinal upper limb deficiencies

Level	No. of patients	Male	Female	Right	left	No. of patients fitted with prosthesis
Humeral partial\ total	0	0	0	0	0	0
Ulnar partial	1	0	1	1	0	1
Radial total	1	0	1	0	1	1
Carpal total	1	1	0	1	0	1
Metacarpo-phalangeal partial (Ray)	8	1	7	5	3	5
Total	11	2	9	7	4	8 (72.5%)

Table V. Levels of unilateral congenital transverse lower limb deficiencies

Level	No. of Patients	Male	Female	Right	Left	No. of Patients fitted with prosthesis
Thigh total (hip disarticulation)	2	1	1	1	1	1
Thigh partial	0	0	0	0	0	0
Leg total (knee disarticulation)	2	0	2	2	0	2
Leg partial (below knee)	8	3	5	5	3	8
Tarsal total	0	0	0	0	0	0
Metatarso-phalangeal partial	2	0	2	0	2	1
Total	14	4	10	8	6	13

Table VI. Levels of unilateral congenital longitudinal lower limb deficiencies

Level	No. of patients	Male	Female	Right	Left	No. of patients fitted with prosthesis
Femoral partial/total (PFFD)	29	15	14	15	14	26
Fibular partial \ total	6	3	3	4	2	2
Tibial partial total	3	1	2	3	0	2
Tarso-metatarso-phalangeal partial \ total	5	2	3	3	2	3
Total	43	21	22	25	18	33     76%

The longitudinal deficiencies (43) in the unilateral lower limbs were more than the transverse deficiencies.(14) The most common deficiency in the transverse type of unilateral lower limb deficiency was the leg partial (below knee) deficiency (8), Table V presents the levels of unilateral congenital transverse lower limb deficiencies.

The most common longitudinal type in the unilateral lower limb deficiency was the femoral partial or proximal femoral focal (PFFD) deficiency (29), Table VI presents the levels of unilateral congenital longitudinal lower limb deficiencies.


 
Table VII. Distribution of Multiple Congenital limb deficiencies

Limb involved	No. of Patients	No. of limb deficiency	Male	Female	Right	Left	Transverse	Longitudinal	No. of patients  Fitted with prosthesis
Bilateral upper limb	8	16	4	4	8	8	16	0	5
Bilateral lower limb	3	6	2	1	3	3	6	0	2
Double (upper \lower)	2	4	1	1	1	3	3	1	2
Triple limb deficiency	4	12	2	2	6	6	9	3	2
Quadriple (four limb )	2	8	1	1	4	4	8	0	0
Total	19	46	10	9	22	24	42	4	11

Table VIII. Prosthetic fitting of patients with congenital limb deficiency

Side of deficiency	No. of patients	No. of fitted patients	%	No. of limb involved	Transverse deficiency	Prosthetic fitting	%	Longitudinal deficiency	Prosthetic fitting	%
Unilateral upper limb	67	50	74.5	67	56	42	75	11	8	72.5
Unilateral lower limb	57	46	81	57	14	13	93	43	33	76
Multiple limbs	19	11	58	46	42	25	59.5	4	2	50
Total	143	107	75	170	112	80	71.5	58	43	74

Table IX. The suspected incriminated etiological factors in congenital limb deficiency

Etiological factor	Number of patients involved	%
Radiation during pregnancy	9	6.3
Drugs	18	12.6
German measles	2	1.4
Heredity	2	1.4
Cousin marriages	16	11.2
Injury to abdomen, vaginal bleeding, UTI during pregnancy	28	12.6
Subtotal	75	52.5
Non claimed causes	68	47.5
Total	143	100

We found 19 patients suffered of multiple congenital limb deficiency; they had 46-limb deficiencies.  One  of  the  patients  was  a  girl  with quadriple type deficiency had bilateral transverse arm totalis and bilateral thigh totalisThe patients with bilateral upper limb involvement were the most common in the multiple congenital limb deficiency, followed by the triple limb deficiency; Table VII presents the distributions of multiple congenital limb deficiencies.

 One hundred and seven (75%) patients with limb deficiency were fitted with prostheses. 57(81 %) of the unilateral congenital lower limb, 67(74.5%) of the unilateral congenital upper limb, and 19(58%) of the multiple congenital    limb    deficiencies    were    fitted   with prostheses, Table VIII presents prosthetic fitting of patients with congenital limb deficiency.

Seventy five (52.5%) child mothers claimed exposure to some of the incriminated etiological factors, like exposure to x-ray, drugs, German measles, vaginal bleeding, UTI…etc, Table IX presents the most incriminated etiological factors.


Discussion

In this study, we reviewed the incidence and demographic characteristics of children with congenital limb deficiency, types, levels and some of the incriminated etiological factors, also presented the percentage of patients who were fitted with prostheses. The results in this study had similarities and differences with literature.  The incidence per thousand of amputees in this study (60 per thousand) was less than a local epidemiological study on amputee population in the RMS-Jordan,(14) and higher than Indian, Japanese, Australian, and other western studies which were about 30 per thousand of amputees.(2,3,7,11-13,15)

The increase of the incidence in this study maybe explained by that our centre (RRC) is a referral centre for pediatric orthopedic, plastic surgery and rehabilitation; we receive patients from all regions of the country, which we think increased the number of the congenital limb malformations in our services.

We suggest a comprehensive survey for all newborns in our country for few years to estimate the exact incidence of the limb malformations and other types of congenital malformations in accordance of the international epidemiological studies.
 
Male children (62) were less than female children (81) with male to female ratio of 1:1.3. The mean age of females (7.9 years) was higher than male mean age (6.3 years). Presented similarities with local, and Turkey studies also differences with Australian, Japanese, Tunisian, Venzualians, Indian and Netherlands studies.(2,4,5,8,12-14,16,17)

 We may explain that in our society the parents are more aware for their daughters with congenital malformations than their son’s malformations and feel ashamed to bring them from birth for medical consultation but by the end they are obligated to face the fact and bring them to the clinic for that the number of girls was more and the girls were older than boys at presentation to the clinic for prosthetic rehabilitation.

The unilateral congenital upper limb deficiencies predominated the unilateral congenital lower limb deficiencies, which presented similarities with Japanese, Indian studies, and differences with Turkey, Venezuelians, and Netherlands studies.(2,4-8,13,18) The transverse type deficiencies were more than the longitudinal type deficiencies.

 The transverse deficiencies predominated in the unilateral upper limb and in the multiple congenital limb deficiencies, while the longitudinal deficiencies predominated in the unilateral lower limb congenital deficiencies, which had similarity with some studies( 2,3,4,8) and difference with other studies.(5,6,13,16,17)  The most common transverse level in unilateral upper limb deficiencies was the forearm partial (below elbow) deficiency which was similar to many studies.

(2,13,18) The longitudinal metacarpophalangeal (ray) deficiency was the commonest in the unilateral longitudinal upper limb deficiencies, in contrast with the majority of literatures were the commonest type was the longitudinal radial partial/total deficiency.(17,19) In unilateral congenital lower limb deficiencies the leg partial (below knee) level was the commonest transverse deficiency, which presented similarity with published studies.(7,12,13)

The femur total/partial deficiency presented the majority in the longitudinal unilateral lower limb deficiencies which was similar of the Venezuelian study(17) while the fibular total/partial deficiency was the most common in the majority of the published studies.(2,5,6,13,16,20)  This may be explained by that many of the children with fibular total deficiency referred to us by the orthopaedic surgeon after doing a below knee amputation for them, and we considered those as transverse not longitudinal type because of deficit of old information for the patients.

 We reviewed all patients with leg length discrepancy for compensation, which let about all patients with proximal femoral focal deficiency to attend the clinic for assessment. This may explain that the femur total/partial deficiencies predominant in the longitudinal lower limb deficiency in our study.

The right side were more than the left side deficiencies, which was similar of some studies(5,6) and different than other studies.(2,18)  In the multiple congenital limb deficiencies the bilateral upper limb deficiencies were the commonest followed by the triple limb deficiencies, inconsistent with many literatures.(2,3,13) This maybe explained by that some of the simple and of the complicated deformities of the lower limb, didn’t attend the prosthetic rehabilitation clinic, and satisfied with orthopaedic management or didn’t appear in both clinics because of family problems and traditions which made the number of multiple lower limb involvement few.

107 children accounted 75% of all limb deficient children received prostheses. The percentage of unilateral lower limb deficient children who received prostheses (81%) were more than unilateral upper limb (74.5%), inconsistent with many authors who reported that all children with limb deficiency were provided with prostheses, although not all use it.

 Concerning the use of prostheses, they found that about 30-45% of upper limb deficient children use their prostheses and 69-85% of lower limb deficient children use their prostheses. (2,3,4,6,12,13,18,21) This presented some similarity with our study because we offer the prosthesis for the child who we know he may use it for the lower limb deficient children and we offer the cosmetic type prostheses for the majority of upper limb deficient children.

In relation of the incriminated etiological factors like x-ray exposure, drugs, heredity ….etc, we found that 52.5% of children family claimed exposure to it. 9 mothers exposed to x-ray in the second and third trimester, where no proved limb malformation happen in this period. According to literature, most limb defects develop between the third and eight post-ovulatory weeks.(21)

Eighteen mothers ingested drugs like antibiotics, antipyretics, non thalidomide antiemitics and tonics with no proved iatrogenic effect.
Sixteen child parents were relatives and presented traditional cousin marriages. Cousin marriages are not implicated definitely in congenital limb deficiencies in any study apart of Turkey study in a small number of patients which related close cousin marriages that may increase the longitudinal upper limb and the transverse lower limb deficiencies.

(4)   Twenty eight child mothers exposed to urinary tract infection, vaginal bleeding and mild injury to the abdomen during pregnancy, which were not prove to produce definite congenital limb malformations. Two mothers exposed to German measles in the second trimester, with no definite effect. Two children, one girl and one boy had transverse carpal partial deficiency, were cousins (the boy mother is sister of the girl father). This raised the possibility of hereditary factor but they hadn’t any other associated organic involvement and no other presented malformations.

Despite the various factors mentioned, no definitive cause could be isolated except for the two cousin children were heredity maybe implicated and this calls for definitive genetic study.


Conclusion

The most common deficiency in our study was the transverse fore-arm partial in upper limb and the longitudinal femoral partial deficiency in the lower limb. The majority of our congenital limb deficient children fitted with prostheses although not all use it functionally.

No etiological factors definitely could be incriminated in the congenital limb deficiency.

This study made a cornerstone for new further studies in the congenital limb deficiency in our country; also it helps in future planning management and future planning of material, facilities, budget needs for children with limb deficiency.  


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