MISSED DIAGNOSIS OF ISOLATED BILATERAL TRANSVERSE FACIAL CLEFT: A CASE REPORT

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O.F. Fagbule¹, O.T. Alade², O. Ibiyemi1³, and A.A. Olusanya⁴

1. Department of Periodontology and Community Dentistry, University College Hospital, Ibadan, Nigeria.
2. Department of Preventive and Community Dentistry, Faculty of Dentistry, College of Health Sciences, Obafemi Awolowo University, Ile-Ife, Nigeria.
3. Department of Periodontology and Community Dentistry, College of Medicine, University of Ibadan, Nigeria.
4. Department of Oral and Maxillofacial Surgery, College of Medicine, University of Ibadan and University College Hospital, Ibadan, Nigeria.

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Abstract

Introduction: Bilateral transverse facial cleft is the most common of the rare facial clefts and early presentation is a key element for successful management and prevention of possible complications like poor esthetics, speech and eating difficulties. Though several studies have documented reasons for late presentation, none has highlighted non-referral due to missed diagnosis by healthcare workers as a reason.

Case Report: A nine-year-old girl was brought by her parents to the Primary Oral Health Clinic on account of “very wide mouth” noticed at birth. The mother noticed the anomaly few hours after she gave birth to her and immediately pointed the attention of the nurses and birth attendants to it but they dismissed her concern. Subsequently, the mother took the girl to the maternity centre for routine immunization appointments, but none of the healthcare workers she encountered recognized the birth defect. The parents further reported that the girl received jests and abuses from her peers. A diagnosis of Isolated Bilateral Tessier number 7 cleft was made based on clinical examination findings. She was referred to a cleft centre where the repair was successfully carried out at no cost to the patient through the Smile-Train® sponsorship program. Subsequent follow-up visits to the primary healthcare clinic in the sixth and ninth month post-surgery revealed remarkable improvement in both patient’s and parents’ self-reported psycho-social well-being.

Conclusion: This case report presents a rare presentation of delayed isolated congenital bilateral macrostomia because of healthcare workers failure to diagnose.

Keywords: Congenital macrostomia, Tessier 7, Rare facial cleft, Missed diagnosis

Introduction

Congenital macrostomia also described as a Tessier number 7 cleft is a rare facial cleft¹. It usually occurs from the lack of fusion of the maxillary and mandibular processes resulting in a cleft at the commissures of the lips. While a sulcus at the commissure may be the only finding ¹, it typically extends about 1 – 2 cm in length to the anterior border of the masseter ², while more severe types can extend as far as the ear ³ and beyond⁴. It may either occur in isolation or as part of a syndrome in which case there would be other manifestations⁵. The reported incidence ranges from 1 in 60,000 to 1 in 300,000 live births1.

Early presentation for treatment is a key element for successful management of clefts^6,7. However, in developing countries, patients with clefts often present late for treatment with resulting adverse effects on the patients’ psycho-social health and treatment outcomes^6,7. Studies have shown that the reasons for late presentation of these patients for care include poverty, lack of awareness and fear of treatment^6,7. However, none of the studies reported non-referral by healthcare workers as a reason for late presentation of patients. Hidden clefts such as isolated clefts of the palate are often missed by healthcare personnel⁸, but we did not find any report of healthcare personnel missing an external cleft such as this case of congenital macrostomia.

In this case report, we describe a case of bilateral transverse facial cleft, which was noticed by the child’s parents at birth but dismissed by healthcare personnel despite repeated attempts by the parents to get treatment for their child.

CASE PROFILE
A nine-year-old shy and withdrawn Yoruba girl, accompanied by her parents, presented at our Primary Oral Health Clinic in a rural community in Oyo State, Southwestern Nigeria on account of “very wide mouth” noticed from birth. The mother who noticed the deformity shortly after birth in a community health centre said she pointed the attention of the midwife and birth attendants to it at the time, but they simply dismissed her observation saying it will heal up or fuse together as the baby grows older. This however was not so as the deformity became wider as the child grew.

The child’s perinatal history was uneventful. The mother received regular antenatal care and delivered her uneventfully at the maternity centre. She also recorded normal developmental milestones and received a complete course of the routine immunizations. The child had not had any problems with oral functions (speech, mastication), but aesthetics had been a major challenge. Her peers made unsavory remarks about her especially in her school. Her parents believed this had been a source of psychosocial challenge for her especially as she grew older. She showed an increasing loss of enthusiasm towards going to school and her parents had to change her school at a time. The aesthetic and psychosocial challenges were the primary reasons the parents presented at our primary oral health clinic with her.

The child is the first of two of her mother in a polygamous family of five children. The family belongs to the lower socioeconomic class; the mother who’s the first wife is a petty trader with no formal education, while the father only completed secondary school and works as a roadside mechanic.