Upper Limb Congenital Anomalies in Nigeria
David O. Odatuwa-Omagbemi1, Emeka Izuagba2, Roy E. T. Enemudo1, Taiwo O. Osisanya3, Cletus I. Otene1
Lukman O. Ajiboye4
1-Department of Surgery, Delta State University, Abraka. Nigeria.
2-Department of Orthopaedics and Traumatology, National Orthopaedic Hospital, Lagos. Nigeria.
3-Department of Plastic and Reconstructive Surgery, National Orthopaedic Hospital, Lagos. Nigeria.
4-Department of Orthopaedics and Traumatology, Usman Danfodiyo University Teaching Hospital, Sokoto. Nigeria.
Dr. David O. Odatuwa-Omagbemi, Department of Surgery, Delta State University, Abraka. Nigeria.
Background: About 1 - 2% of neonates have congenital anomalies of which 10% affect the upper limbs. Congenital anomalies are structural or metabolic defects present at birth.
Objective: To review cases seen over a four-year period in a tertiary specialist hospital in Lagos, and share our experience.
Methodology: Case notes and theatre records of patients with congenital upper limb anomalies seen during a 4-year period were retrieved and relevant data extracted. Data were analyzed with SPSS version 20.
Results: There were 46 patients with 53 diagnoses of upper extremity congenital anomalies. There were 28 males and 18 females (M: F approx. = 1.6:1). Ages at presentation ranged from 5 weeks to 14 years. Seventeen patients (37%) presented within the first 12 months of life. Average ages of mothers and fathers were 34.1 and 37 years respectively. Twenty-six per cent and 28.3 % of mothers had febrile illnesses and used herbal products respectively during the index pregnancies. Swanson’s group 2 was the commonest (58.4). Syndactyly was the commonest descriptive individual diagnosis (49%). Treatments were individualized according to specific diagnosis.
Conclusions: Congenital anomalies of the upper extremities present as various diagnostic entities. Syndactyly was the most frequently encountered here.
Key Words: Upper limbs, Congenital, Anomalies.
Ann Afr Surg. ****; **(*):***
Conflicts of Interest: None
© 2020 Author. This work is licensed under the Creative Commons Attribution 4.0 International License.
Congenital anomalies or birth defects are structural or functional anomalies including metabolic disorders which are present at birth (1). About 1 to 2% of neonates are born with congenital anomalies and 10% of these affect the upper limb (2,3). In addition, it is said that 1 out of every 626 live births has congenital upper limb anomaly in most cases minor without functional deficit and that only 10% of them will actually require treatment (4). These anomalies may occur in isolation or may be associate with other systemic anomalies in the cardiovascular, neurologic, hematologic and other musculoskeletal systems or might be part of a syndrome like Holt-Oram, Apert’s and other associations.
The upper limb in humans starts to develop at about 4th week of intra-uterine life and is fully developed by the end of the 8th week of gestation. This development is said to be under the control of 3 signaling centers: i) The Apical Ectodermal Ridge (AER), that controls proximal to distal limb development by secreting fibroblast growth factor(FGF); ii) Zone of Polarising Activity (ZPA) that controls Radio-ulnar axis limb development by secreting Hedgehog Protein and iii) The Wingless Type (Wtn) signaling center that produces a molecule responsible for dorso-lateral development of the upper limb (1,2,4,5,6). Abnormal happenings or disruptive activities at any of these signaling centers at the critical period of limb development will lead to various congenital upper limb anomalies (2).
In about 40 to 50% of cases, the etiology of congenital upper limb anomaly is unknown. Genetic and various environmental teratogenic factors have been implicated in the etiology of the rest (1,4).
Congenital upper extremity anomalies when they occur are usually a source of worry to parents and care givers and their fears need to be assuaged by the attending doctor. The surgeon needs to thoroughly evaluate cases in order to counsel the parents properly. In addition, congenital anomalies associated with other systemic problems will need further investigative work-ups and referrals / consults to other specialists as some of those other conditions may require more urgent attention than the obvious upper limb anomaly the child presented with (1,7).
We review cases of congenital upper limb anomalies seen and managed in our center over 4-year period and share our experiences.
Patients and Methods
A 4-year retrospective review of cases of congenital upper limb anomalies seen at a tertiary specialist hospital in Lagos between January 2014 and December 2017. For the purpose of this study, “Congenital anomalies of the upper limbs in children are structural or functional anomalies which are present at birth in children between ages 0 – 16 years presenting to our health facility.” Case notes and theatre records of patients who met the defined criteria during the study period of 48 months were retrieved from the records department and relevant information including; biodata, antenatal and family history, diagnosis, investigations, treatments offered and outcome were extracted and entered into an already prepared proforma for that purpose. Case notes without complete records were left out.
Similar anomalies affecting both upper limbs were taken as a single diagnosis while significantly different anomalies affecting the two upper limbs were taken as separate diagnoses with regards to frequencies.
Swanson’s classification (8,9) was used to group cases into 7 sub-groups in addition to individual descriptive diagnosis of cases and tabulations were done accordingly. Data were analysed using SPSS version 20 (SPSS Inc. Chicago, Illinos, USA) and presented in form of tables, ratios and percentages. In addition, sample photographs of some cases (pre-operative and post-operative) are also presented in the results section.
Forty-six patients with 53 congenital upper limb anomalies were reviewed for the 4-year period (January 2014 to December 2017). There were 28 males and 18 females giving a male: female ratio of 1.56:1. Their ages at presentation ranged from 5 weeks to 14 years. Seventeen patients (37%) presented within the first 12 months of life and another 11 (23%) presented between 12 and 24 months of age. Table 1.
All the children were delivered at term. The average age of mothers was 34.1 years and that of fathers was 37 years. Twelve mothers (26%) had history of febrile illnesses during pregnancy. Thirteen mothers (28.3%) had history of use of herbal medications during pregnancy.
Using Swanson’s classification of congenital limb anomalies (8,9), the most common subgroup encountered was failure of differentiation (58.4%) followed by duplications (26%). Table 2.
Syndactyly was the most common individual descriptive diagnosis observed being present in 49% of diagnosis (26 cases - 22 separately and 4 in combination with polydactyly) followed by polydactyly in 26.4% of the diagnoses (14 cases – 10 separately and 4 in combination with syndactyly). Table 3.
Some of the patients (11 of them) had other associated anomalies affecting other body systems and musculoskeletal system in other parts of the body some of which are syndromic as follows:
Tibial hemimelia in a patient with syndactyly
Poorly formed ear lobes (pinnae) in a patient with syndactyly
Left congenital talipes equino-varus deformity in a patient with clinodactyly
Proximal focal femoral deficiency and big toe duplication in a patient with radial deficiency.
Syndactyly of the feet in a patient with radial deficiency.
Anorectal malformation in a patient with radial deficiency
Associated lower limb constriction bands in the patient with bilateral upper limb constriction bands.
Foot polydactyly in a patient with radial deficiency
Syndactyly in a patient with other features of Apert’s syndrome and anemia
Radial deficiency with atrial septal defect (ASD) in Holt-Oram’s syndrome.
Thrombocytopenia with radial deficiency (TAR)
Treatments offered included soft tissue release and skin grafting for + osteotomies for simple and complex syndactyly respectively, excision / amputation for polydactyly, serial manipulation and casting for 2 of the radial club hand patients with Bayne’s type 1 & 2. Ilizarov external fixator was used for bone lengthening and deformity correction for 3 other patients who had Bayne’s type 4 radial club hands. The Holt-Oram Syndrome was initially referred for cardiac surgery, before coming back for deformity correction. In addition, Soft tissue release and osteotomy was done for clinodactyly, soft tissue release for constriction bands while the cleft hand patients were counseled and left alone. Seven of the patients refused treatment.
Figures 1a to 1c are clinical photographs of an 8-year-old boy who had right radial club hand with associated cardiac septal defect; before, during and after treatment with Ilizarov device.
Figures 2a and 2b are clinical photographs of a child who had right complete simple syndactyly of the middle and ring fingers (Pre- and Post-operative)
Complications included: 5 cases of wound infections and 4 cases of skin flap necrosis (during treatment of syndactyly). Pin tract infections occurred in 2 of the patients while using the Ilizarov device that necessitated use of antibiotics in addition to local pin tract care on two occasions. Two of the patients with radial club hands that were treated with serial manipulation and casting came back with recurrence of deformity and had re-manipulation.
Congenital anomalies of the upper limb are not rare, the practicing Orthopedic surgeon should be able to diagnose common anomalies when they present, initiate appropriate evaluation / investigations to detect any associated systemic conditions as necessary and refer when indicated (5).
In treating children with congenital upper limb anomalies, considerations may include; whether or not to treat surgically, the age at presentation, the surgical options, probable cosmetic and functional outcomes. In addition, psychological and emotional dispositions of the parents –who may have a sense of guilt including that of the matured child who may be a source of jokes at school, are all important considerations (2,5).
The age at which surgical treatment is offered is very important in the functional outcome of treatment of patients with congenital upper extremity anomalies. In the first year of life there is greater cerebral plasticity and as such deformities that need correction bearing other considerations in mind should be surgically done as early as possible as the child will adapt functionally better due to higher cerebral plasticity at this period (10).
The need for early presentation can thus not be overemphasized. In this study, only 37% of the patient presented to us within the first 12 months of life. Mba et al (7) in a 10-year review of congenital anomalies of the hand in their center in Enugu also in Nigeria reported that less than half (48.8%) of their cases presented within 12 months of life. A worse scenario has been recorded by Goswami et al (1) from a hospital in Pakistan were only 4 (13.3%) out of 30 cases presented within 12 months of life. Poverty, ignorance and activities of un-orthodox practitioners have been adduced to be some of the reasons for this late presentation in developing countries (7) as opposed to what happens in developed and enlightened societies where early presentation is the norm.
Sex ratios in studies of congenital anomalies of the upper extremities is said to vary from study to study except for some specific diagnosis like syndactyly in which males have been reported to be twice more affected than females (7,11).
There were more males in our study than females – male: female ratio = 1.6:1. Similarly, Koskimies et al (12) found more males  affected than females  in their study – male: female ratio = 1.26 :1.
In contrast, Mba et al (7) and Goswami et al (1) observed a preponderance of females in their studies with male: female ratios of 1: 1.69 and 1: 1.5 respectively which is similar to what Giele et al (13) also recorded. Equal sex ratio of 1: 1 has been reported by Golfarb et al (14).
Some congenital anomalies have been noted to increase in frequency with increased parental ages. Giele et al (13) noted that congenital upper limb anomalies are more common in babies of older mothers. The average maternal age in this study was 34 years. This is higher than the average of 31 years reported by Mba et al (7).
The teratogenic effects of hyperthermia in pregnant animals and man have been recognized and widely reported in the literature (4,7,15,16,17). The degree of teratogenicity is said to depend on the degree of increased temperature, the duration of exposure and the gestational age of the mother (16,18). Twelve mothers (26%) had positive history of febrile illnesses during pregnancy in this study. Mba et al (7) similarly reported that 26% of mothers in their study had febrile illnesses during the index pregnancies. Various etiological factors might be responsible for these febrile conditions with Malaria being a leading cause in our environment (7,19).
The use of herbal products during pregnancy and lactation is a common practice in Africa and many parts of the world. These products are however not entirely risk free to the developing embryo (7,19,20). Over 28% of mothers in this study admitted to the use of herbal products during pregnancy. A study from South Africa involving 229 pregnant women revealed that 55% of them used herbal products during pregnancy (21). Another study from Nigeria (7) recorded that 11.6% of mothers of children with congenital hand anomalies used herbal products during pregnancy. While a direct cause-effect relationship between these products and congenital upper limb anomalies has not been established, there is need for mothers to be more discrete with the type of products ingested during pregnancy.
All the children reviewed in this study were delivered at term. Giele et al (13) in a population-based study in Australia however, reported that congenital anomalies of the upper limbs are more common in pre-term babies.
Various classification systems for congenital anomalies of the extremities have been put forward (3,8,9,13,21). The classification by Swanson (8,9) has been used here to group the patients into 7 groups in addition to individual descriptive anatomic diagnosis used in managing individual patients. Over 58% of diagnosis in this study fell under failure of differentiation (group 2). In another hospital-based study from Pakistan, Goswami et al (1) similarly recorded that 53.8% of the cases in their study also belong to the group of failure of differentiation. In addition, Giele et Al (13) in a population-based study from Australia also reported that failure of differentiation was the commonest category found in their study making up 35% of the total - though a much lower proportion than seen in this study and the previous one cited.
Jordan et al (11) opined that syndactyly is the most common congenital defect of the hand. About 49% of patients in this study presented with syndactyly (either isolated or combined with other diagnosis), making it the commonest finding here also. Similarly, both Goswami et al (1) and Mba et al (7) also found syndactyly the most common diagnosis in their studies.
Congenital anomalies of the upper limb may be associated with other anomalies of the cardiovascular, neurologic, craniofacial and other systems including VATER / VACTERL associations and syndromes (1,2,4). This makes it imperative for detailed examination of every presenting child and investigations done when indicated with appropriate referrals and multidisciplinary management as necessary. In this study, about 24% of patients had congenital anomalies also affecting either the lower limbs or other systems including cases of Holt-Oram syndrome, Apert’s Syndrome and TAR (Thrombocytopaenia absent radius) syndrome. Similarly, Goswami et al (1) in their series of 30 cases of congenital upper limb anomalies found 4 cases of associated constriction bands and 3 cases of Apert’s Syndrome (about 23% in all). However, Froster and Braid (23) observed that the proportion of upper limb deficiencies that has abnormalities elsewhere in the body varied with the subgroup of specific diagnosis. They reported that 89% of cases of longitudinal radial deficiencies in their study had associated anomalies elsewhere in the body while only 28% of those with transverse radial deficiencies had additional malformations.
Treatment of children with congenital upper extremity anomalies can be challenging due to their diverse nature but also rewarding as it provides an opportunity for the surgeon to positively impact the child’s growth and development (3). Treatment which is multidisciplinary in many instances involving the pediatrician, occupational and physical therapist, pediatric cardiologist, hematologist, neurosurgeon etc., is individualized and is aimed at getting a good upper limb function in addition to cosmetic outlook (7,24). Furthermore, other important considerations will include; the actual diagnosis and severity of condition in a particular child, other associated systemic defects, the functional demands of the child, age at presentation, surgical expertise, facilities available to the surgeon, and very importantly in our environment the financial status of the parents / guardian.
Our patients were offered the best available cost-effective treatments for their conditions. Cases of syndactyly which were the most commonly encountered anomaly in this study had soft tissue releases with Z-plasties and full thickness skin grafts for simple cases as similarly described in other studies (7,12,24) with additional osteotomies in complex cases. The least functional or least developed fingers were excised or amputated in cases of polydactyly as also reported by other authors (2,3,7).
The use of external fixators in the treatment of radial club hand especially Bayne’s types III & IV has been variously described in the literature (2,25,26,27). Three of our patients with Bayne’s type IV absent radius had treatment with Ilizarov frame application for bone lengthening and deformity correction.
Congenital upper limb anomalies present as a variety of diagnostic entities in our setting. Syndactyly was the commonest finding in this study followed by polydactyly. Appropriate individualized treatments were offered according to diagnosis.
Funding: The authors declare no source external funding for this study.
Conflict of Interest: The authors declare no conflict of interest in carrying out this work
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