PubMed · 8056096
Hypohydrotic ectodermal dysplasia affecting a female patient.
Abstract
Ectodermal dysplasia syndromes are extremely rare. Hypohydrotic Ectodermal Dysplasia (HED) is classically an X-linked recessive condition affecting males, although a clinically identical autosomal recessive form of this condition has been described. The patient described in this article is female, who was initially thought to be a manifesting carrier for X-linked HED. However, the pedigree and examination of other family members suggest that she has the rarer autosomal recessive form. The patient is also edentulous and requires complete dentures, a concept regarded by many as a novelty in young children.
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S G Ellis, H Ahmed. 1993. Hypohydrotic ectodermal dysplasia affecting a female patient.. https://pubmed.ncbi.nlm.nih.gov/8056096/
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