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CASE REPORT
Year : 2021  |  Volume : 28  |  Issue : 4  |  Page : 298-302

Ablepharon macrostomia syndrome: Absent prepuce in the first case report in West Africa


1 Department of Pediatrics, Faculty of Medicine, Nnamdi Azikiwe University, Awka; Department of Pediatrics, Nnamdi Azikiwe University Teaching Hospital, Nnewi, Anambra State, Nigeria
2 Department of Pediatrics, Nnamdi Azikiwe University Teaching Hospital, Nnewi, Anambra State, Nigeria

Correspondence Address:
Dr. Ezinne Ifeyinwa Nwaneli
Department of Pediatrics, Nnamdi Azikiwe University Teaching Hospital, PMB 1025, Nnewi, Anambra State
Nigeria
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/npmj.npmj_318_20

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Ablepharon macrostomia syndrome (AMS) is an extremely rare congenital ectodermal dysplastic disease characterised by craniofacial, skin, skeletal and genital abnormalities. Very few cases have been reported since the first case report in 1977. We report the case of a 6-day-old male delivered to unrelated parents. He was dysmorphic with absent eyelids, eyelashes and eyebrows, large fish-shaped mouth, hyperpigmented thick anterior abdominal wall, absent prepuce amongst other features. Skull X-ray showed poorly developed zygomatic bones. The patient is being managed as a case of AMS in a multidisciplinary fashion. There is no agreement on the mode of inheritance, but authors have suggested autosomal recessive, autosomal dominant, sporadic and familial occurrences. The absence of the prepuce and hyperpigmentation of the anterior abdominal wall as was seen in our patient has not been reported. More case reports are needed to delineate the spectrum of clinical features in AMS.


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