A Rare Case of Dubowitz Syndrome with Polyendocrinopathy

Title: A Rare Case of Dubowitz Syndrome with Polyendocrinopathy

Authors: Gaurav Gupta, Dr Ila Pahwa, Dr Hemant Kumar Sharma

DOI: https://dx.doi.org/10.18535/jmscr/v7i9.130

Abstract

Dubowitz Syndrome – A very rare genetic and developmental disorder, characterized by Microcephaly, Stunted Growth, Small Jaw (Micrognathia), Sparse Hair, Mental Retardation. Symptoms may vary among patients, facial appearance is the key to the diagnosis. H/O Consanguineous Marriage in parents. Thus far only about 200 cases have been reported worldwide since 2002. Here, we report a case of a male, 30 years, presented with Non Healing Ulcer over left foot, with characteristics features of Short Stature, Microcephaly, Microganathia, and High Arched Palate with Polyendocrine involvement like Diabetes Mellitus, Hypothyroidism, and Hypoparathyroidism. H/O Consanguineous Marriage in Parents is present. Prompt diagnosis with regular follow up and supportive care remains the key to the management of this disorder.

References

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