Mabry Syndrome in a Child of South Asian Descent

Abstract

Mabry syndrome is the triad of seizures, hyperphosphatasia, and mental disability. It usually manifests in first year of life and has an autosomal recessive mode of inheritance. Besides the usual triad, other manifestations of Mabry syndrome include hypoplasia of distal phalanges, brachytelencepahly, gastrointestinal malformations and constipation, hypertelorism, short nose with a broad nasal bridge and dip, and thin upper lip with down turned corners of the mouth. More than 20 cases of Mabry syndrome have been reported in medical literature. Herein, we report the case of a six-month child with Mabry syndrome that presented with decreased neck holding, hypotonia and delayed motor milestones. The child also had a high-arched palate and hyperplastic malar eminences. Constipation was present but had a delayed onset, starting at 19 months of age. This is the first case of Mabry syndrome occurring in a child of South Asian descent.