Last update 01 Nov 2024

Pinheiro Freire-Maia Miranda Syndrome

Basic Info

Synonyms
Pinheiro Freire-Maia Miranda syndrome, Pinheiro, Freire Maia, Miranda syndrome, Pinheiro-Freire Maia-Miranda syndrome
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Introduction
A rare genetic ectodermal dysplasia syndrome with characteristics of sparse, thin brittle scalp hair as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, cafe au lait spots on back, mild dystrophy of nails and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986.

Analysis

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