A 37-year-old Nigerian woman with Apert syndrome – medical and psychosocial perspectives: a case report – Journal of Medical Case Reports

Our patient is a 37-year-old African woman with Apert syndrome that was suspected at birth based on her physical deformities and later confirmed with a laboratory investigation. As an adult, she has had several medical consultations on account of illnesses like malaria but was never hospitalized. For this case report she had a comprehensive clinical evaluation, and radiological and laboratory investigations at the Barau Dikko Teaching Hospital (Kaduna, Northwestern Nigeria). A provisional diagnosis of Apert syndrome was made while a differential diagnosis of Crouzon syndrome was considered. A physical examination showed a young woman who was clinically stable, appeared older than her given age, physically and mentally alert, although very self-conscious of her physical appearance. Her cardiopulmonary and abdominal findings were within normal limits. She had an abnormal skull and facial characteristics with her eyes wide-set and bulging, which did not close well (Fig. 1). Her upper jaw was underdeveloped with crowded teeth and dental anarchy. There was no loss of teeth; palatal arch and nasal cavity were normal. Her second to fourth fingers were symmetrically webbed and fused (Fig. 2), whereas her first toes were underdeveloped with fusion of the other four phalanges (Fig. 3).

Fig. 1

Anterior and lateral pictorial and X-ray views of the face

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Fig. 2

Picture and X-ray of the hands

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Fig. 3

Picture and X-ray of the feet

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The Patient Health Questionnaire-9 (PHQ-9) was used to assess her for depressive disorder [10]. A score of 11 placed her within the range for moderate depression, which aligns with her constant feeling of unhappiness and worry about her physical deformity. She denies any history of physical, sexual, or financial abuse by others. She is not intellectually disabled, has no history of alcohol or drug abuse, and does not require assistance to undertake activities of daily living. Her speech and language abilities were normal and sufficient for communication and learning.

Skull X-rays showed an elevated frontal bone and depressed midfacial bones (Fig. 1); the cranial vault showed a copper-beaten appearance. The first phalanx of her thumb is short and thick bilaterally while the second phalanges are underdeveloped (Fig. 2). There is fusion of the bases of the fourth and fifth metacarpals bilaterally while there is minimal bony fusion at the apices of the second to fourth proximal phalanges symmetrically. The bones of her feet indicated fusion at the bases of the first and second metatarsal bones bilaterally while there are medial angulations of the metatarsophalangeal joints (Fig. 3). Chest radiograph, brain computed tomography (CT) scan, electrocardiography, and echocardiography showed normal features. Hematological and blood chemistry parameters were within normal limits. Deoxyribonucleic acid (DNA) analysis done showed a mutation in the FGFR2 (Ser252Trp) that was positive. This result of the genetic test complemented other clinical findings to confirm the diagnosis of Apert syndrome.

Her father and mother were 35-years old and 25-years old, respectively, at the time of her birth in 1979. She was a product of a normal term pregnancy that was characterized by regular prenatal care attendance and at the third trimester her mother had a history of leg swelling, which was not associated with other significant clinical complaints. The labor and delivery were at home, but our patient was immediately observed to have abnormal physical features affecting her face, hands, and feet. At 3 months of age, she was admitted for 12 weeks at Ahmadu Bello University Teaching Hospital (Kaduna, Northwestern Nigeria) for clinical evaluation, pre-surgery preparation, and surgical operation. The surgical plan was to correct deformities of her eyes, hands, and feet. However, the operation was not done due to an anesthetic complication that resulted in her lapsing into unconsciousness after which she was resuscitated. The procedure was rescheduled but the unfavorable experience of the first attempt discouraged her family from seeking further surgical intervention. She had normal developmental milestones in terms of dental maturation, speech, crawling, and walking as well as social interaction. Although as an adult she expressed desire for an improvement in her physical features, she is afraid of complications because of what her parents narrated about the earlier attempt.

She was enrolled into a public school as a child and coped well until it was terminated after 3 years. This was mainly due to constant teasing of her abnormal physical features by schoolmates. Eventually, she did not have any formal education or vocational training and took up street begging at 12 years. Later as an adult she intermittently resided in a shelter for disabled people where she felt normal among other persons with physical disabilities. The shelter is not well organized and funded to cater for their basic needs like food and health care. Hence, the disabled persons routinely beg on the street as a source of livelihood. It was in this shelter that she interacted with male disabled persons and got married three times. The first husband died from severe burns resulting from fire that gutted their home and the second marriage ended in divorce because the husband was incapable of meeting her basic needs. She could not recall her age at her first marriage or its duration or the interval between the end of her first marriage and the start of her second marriage. She was pregnant once during the second marriage, which ended in miscarriage. A third marriage was contracted approximately 3 months before our first interview with her in August 2015. The third marriage was short lived and ended in divorce due to disagreements. All her husbands were beggars characterized with various forms of physical deformity. She still desires to re-marry so that she can live an independent life.

She currently resides with her extended family where she feels accepted and not stigmatized. She affirmed that she related well with them and is happier at home. However, her relationship with her family was sometimes strained because of her refusal to stop street begging. Furthermore, the family expects and exerts pressure on her to get married because all her younger sisters were married. She is the eldest daughter among the 12 children (4 males and 8 females) in a polygamous setting. All the children were alive and none had her type or any other form of genetic disorder. Her siblings considered her a stubborn but motivated person who attains goals once she sets her sight on them. At the time of the interview, her father was a 71-year-old pensioner, while her 62-year-old mother had never been engaged in formal employment.