Rare Diseases Symptoms Automatic Extraction

A severe and rapidly progressive case of proteus syndrome in a neonate who presented with unilateral hydrocephalus apart from other typical features of the proteus syndrome.

[proteus syndrome]

Proteus syndrome is a rare hamartomatous disorder affecting multiple tissues and manifesting itself in a variety of ways. The understanding of the complete spectrum of clinical features, the natural clinical course of the disease and the proper management of such a rare but highly variable syndrome depend heavily on experiences gathered by previously reported cases. We present an unusually severely affected and rapidly progressive case of proteus syndrome in a neonate who presented with craniofacial hemihypertrophy, subcutaneous masses, capillary hemangioma, varicose veins, epidermal nevi and macrodactyly. The cranial ultrasonogram revealed unilateral hydrocephalus with partial obstruction of the foramen of monro.

Diseases presenting "craniofacial hemihypertrophy" symptom

  • proteus syndrome

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