|Year : 2013 | Volume
| Issue : 1 | Page : 49-52
Facial cleft with Amelia: A Nigerian case report
Fomete Benjamin1, Ezekiel Taiwo Adebayo2, Rabiu Mohammed3, Emmanuel Oladepo Adekeye4
1 Maxillofacial Unit, Ahmadu Bello University Teaching Hospital Zaria, Nigeria
2 Army Dental centre, Military Hospital Ikoyi, Lagos, Nigeria
3 Department of Anesthesia, Ahmadu Bello University Teaching Hospital Zaria, Nigeria
4 Etomie Oral and Maxillofacial Specialist Hospital Kaduna, Nigeria
|Date of Web Publication||7-Mar-2013|
P.O. Box 3772, Kaduna
Source of Support: None, Conflict of Interest: None
| Abstract|| |
Clefts of the lip and palate are the most common serious congenital anomalies in orofacial region. However, the occurrence of associated defects in the limbs is quite rare. This report presents a 12-week-old male child born with unilateral left cleft lip and palate, absence of the upper left arm and forearm, and fusion of both big and middle toes and absence of the entire small toe on the left foot. The repairs of lip and palate defects were done at 6 and 19 months of age while parents were referred for rehabilitation to ameliorate absence of upper left arm. We discuss the challenges of management of defects in a developing economy, issues of acceptance of children born with defects amenable to surgery and the benefit of parental education on the care of the child.
| Abstract in French|| |
Les fentes de la lèvre et le palais sont des anomalies congénitales graves plus courantes dans la région bucco-faciale. Toutefois, la présence de défauts associés aux membres est assez rare. Ce rapport présente un enfant mâle de 12 semaines, né avec unilatérale gauche fente labiale et palatine, absence de la partie supérieure du bras gauche et l'avant-bras et la fusion des deux grands et orteils moyens et absence de tout le petit orteil du pied gauche. Les réparations des défauts palatines ont été effectuées à l'âge de 6 et 19 mois tandis que les parents ont été envoyés pour la remise en état remédier à l'absence de la partie supérieure du bras gauche. Nous discutons les défis de la gestion des défauts dans une économie en développement, les questions d'acceptation des enfants nés avec des défauts se prêtent à la chirurgie et la prestation de l'éducation des parents sur les soins de l'enfant.
Mots clés: Faciale, une fente, amelia
Keywords: Facial, cleft, amelia
|How to cite this article:|
Benjamin F, Adebayo ET, Mohammed R, Adekeye EO. Facial cleft with Amelia: A Nigerian case report. Ann Afr Med 2013;12:49-52
| Introduction|| |
A cleft is a congenital abnormal space or gap in the upper lip, lower lip, alveolus or palate.  Cleft lip and palate (CL/P) are the most common serious congenital anomalies to affect the orofacial region. , Because they are deformities that can be seen and felt, and affect speech, they constitute a serious affliction to those having them including an embarrassment to their parents.  From 2 Nigerian studies, though clefting syndromes are rare, associated congenital anomalies were observed in 13-18% of all cleft cases. , In the majority of cases, unilateral, CL/P is an isolated asyndromic birth defect that is not associated with any other major anomalies. By comparison, a much greater proportion of patients with an isolated cleft palate will have an associated syndrome or sequence. 
Amelia is the complete absence of a limb, which may occur in isolation or as a part of multiple congenital malformations. The condition is uncommon and very little is known with certainty about the etiology. ,, Amelia occurs equally frequently in upper and lower limbs, and 11 of 18 (61%) live born cases also had malformations of other organ systems.  In Nigeria, various ethnic groups believe that witchcraft, evil spirit or the devil, the mother, and occasionally the child may be responsible for the development of orofacial clefts.  Such cultural and ethnic beliefs could even result in infanticide in those born with orofacial clefts. , Therefore, early acceptance of children with facial clefts and the even greater challenge where other anomalies like Amelia is present, makes this case worth reporting. This paper presents a case of a Nigerian male child born with a complex combination of cleft lip and palate, Amelia of the upper left limb and fusion of the big and second toes and absence of the last toe on the left foot with comments on the challenges of management.
| Case Report|| |
A 12-week-old male child was delivered via spontaneous vaginal delivery, at home, without complications, to a 26-year-old gravida 3 para 2 + 1 woman. There was no history of consanguinity in the parents and no history of any malformation in either parent or their extended families. The mother did not consume alcohol, or any other known teratogenic drugs or native therapies during pregnancy, neither was she exposed to radiation during the first trimester of her pregnancy. She was not diabetic and had no prenatal diagnostic procedures. The father is a nurse while the mother is a nurse/midwife. The baby at birth had a unilateral, left cleft lip and palate, an absence of the upper left arm and forearm and fusion of both big and middle toes and absence of the small toe all of the left foot. [Figure 1] is the clinical photograph of the facial clefts and Amelia in this infant. [Figure 2] shows fused toes associated with CL/P and Amelia. The abnormal facial appearance was the reason for referral to the Oral and Maxillofacial Specialist Hospital. Clinical examination revealed an otherwise healthy-looking baby, weighing 3.2 kg and the rectal temperature was 37.2°C. The chest was clear to auscultation with a respiratory rate of 24 breaths per minute. Cardiovascular examination revealed no abnormality; the heart rate was 130 beats per minute.
|Figure 1: Unilateral CL/P associated with left Amelia in a Nigerian infant|
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Similarly, examination of the abdomen revealed no abnormality; the external genitalia were of normal male. The occipito-frontal circumference was 38.5 cm (75 th centile). Both the right upper and lower limbs were normal. The complete blood count, serum electrolytes, urea and creatinine were normal. Abdomino-pelvic ultrasound and a brain CT scan were normal. The parents were advised on the feeding of the baby and to wait for 6 months before repairs of cleft lip while the palate was to be done on a later date. They were also advised to continue visiting the pediatrician for check up. The parents contacted the orthopedic surgeon for a prosthetic upper limb. The parents were not particularly bothered about the deformity of the left foot. When the child was 6 months, after base line investigations revealed satisfactory hematological parameters, repair of the unilateral cleft lip was done under general anesthesia using a Millard rotation advancement flap. The surgery was uneventful and sutures were removed on the 6 th day. At 19 months of age, the palate was repaired using the Von Langenback technique, reviews have shown closure of the fistula and patient attends regularly for pediatrician's review to ensure proper growth milestones are achieved. Post operative appearance is shown in [Figure 3]. A written approval was obtained from the parents of the patient for the use of the photograph.
| Discussion|| |
CL/P are the most common orofacial congenital malformations found among live births, accounting for 65% of all head and neck anomalies.  Both the syndromic and asyndromal forms of CL/P may have genetic basis, as according to Stainer and Moore;  Ghassibe, et al., several causative genes for the syndromic forms have been identified, and there is evidence that these genes also contribute to the occurrence of isolated (asyndromal) forms. However, some syndromal cases of CL/P may be non chromosomal in etiology.  In this reported case, genetic studies of the baby were not undertaken as Amelia in combination with CL/P remains a very rare condition and to our knowledge, no established genetic abnormality has been identified for comparison.
The combination of CL/P and Amelia are quite rare, hence prevalence could be hard to establish. In previous Nigerian and Tanzanian reports, CL/P occurring in association with other anomalies such as Van der Woude's syndrome, Down's syndrome and congenital heart defects, neural tube defects, Talipes and persistent ductus arteriosus have been recorded. ,, Zimpfer, et al.,  reported on a male fetus with bilateral brachial Amelia, complex facial clefts, frontal craniosynostosis and hypoplasia, thoracic kyphoscoliosis, and holoprosencephaly. In addition, an interrupted aortic arch, a muscular ventricular septal defect, and a localized non-compaction of the septal myocardium were present.
Whatever the cause, it results from an event that must have occurred between the fourth and eighth week of embryogenesis. Causal factors that have been proposed include amniotic band disruption, maternal diabetes, autosomal recessive mutation and drugs such as thalidomide, alcohol and cocaine. , Mention has been made about the superstition regarding the etiology of orofacial clefts in most traditional societies including Nigeria.  These beliefs could result in abandonment or even infanticide. , Children born with hereditary anomalies compatible with life such as CLP have challenges with feeding, speech, appearance and constitute embarrassment to the parents. When combined with Amelia as in this case, there could be considerable impairment of child development if defects are not adequately corrected early. The obvious acceptance of this baby by the parents is certainly the product of better education and their access to care centers for correction of facial cleft and amelioration of the Amelia. This shows the importance of public education and counseling of the parents in improving acceptance of children with congenital defects.
In this case report, the lip and palatal defects were repaired using the Millard advancement-rotation flap and the Von Langenbeck technique respectively. The preference for and usefulness of these techniques are well documented in the literature. , The patient did quite well after surgery as shown in [Figure 3].
Patients with unilateral Amelia present fewer technical difficulties but bring up several problems unique to unilateral upper Amelia. Estimates suggest an incidence of upper-limb deformity of 1:4200 in general and 1:9400 which might be suitable for prosthetic fittings. The incidence of upper-limb deformity is about 31% as frequent as Down's and 49% as frequent as spina bifida.  The consistent finding of a left-sided bias raises an interesting question concerning the success of prosthetic treatments on the left and right side.  In the case being reported, the left was the affected side. Probably the greatest challenge in the unilateral patient is to create a prosthesis that is as functional and cosmetically pleasing as possible, so that the patient will accept it. Many patients with unilateral amputations reject the prosthesis entirely, preferring to use a passive prosthesis for purely cosmetic reasons. This is attributed to the fact that the average person can attend to most activities of daily living with one arm, and the functional use of a prosthesis is a skill which many amputees do not have the patience, intelligence, or motivation to learn.  However, this child is yet to be fitted prosthesis for Amelia. However, we believe that when fitted, the education of the parents coupled with access to care centers would allow this child to grow as near normal as possible.
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[Figure 1], [Figure 2], [Figure 3]