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Article Abstract
SummaryA female child was admitted to our centre with the chief complaints of recurrent cough and cold and breathing difficulties since day 20 of birth, bowing of both legs for the last 3 years, inability to gain weight for the last 2 years and easy fatigue. She had dysmorphic features characteristic of Melnick-Needles syndrome (MNS). Her mother also had similar phenotypic features.Whole exome sequencing picked up a heterozygous, missense, pathogenic variant (c.3562G>A) in that results in the amino acid substitution of threonine for alanine at the codon 1188 (p.Ala1188Thr; ENST00000369850.10).MNS (OMIM: #309350) belongs to a class of five X-linked disorders called otopalatodigital spectrum disorders that have similar clinical characteristics. The multitude of symptoms in MNS indicates the critical role of in multisystem organogenesis. Variable expressivity in patients may be due to epigenetic modifications. Challenges in genetic counselling were encountered in this case, which could be resolved with multiple counselling sessions.
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