Literature DB >> 3344769

Sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation: a possible "new" form of ectodermal dysplasia.

R M Winter1, K D MacDermot, F J Hill.   

Abstract

A family is described where a mother and three sons have an unusual form of ectodermal dysplasia that may have been described in the medical literature only once before. The unusual manifestations in this family are mild short stature, sparse scalp hair, skin pigmentation and a transient urticarial-like reaction on the hands and arms. The mother and one son demonstrated a single, upper central incisor and the mother and another son had hypoplastic thumbs. The mother alone had hyperkeratosis of the palms and soles. The inheritance pattern is most likely autosomal dominant, although X-linked dominant inheritance cannot be excluded.

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Year:  1988        PMID: 3344769     DOI: 10.1002/ajmg.1320290127

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  3 in total

1.  A single maxillary incisor as a manifestation of an ectodermal dysplasia.

Authors:  I Buntinx; M Baraitser
Journal:  J Med Genet       Date:  1989-10       Impact factor: 6.318

Review 2.  Solitary median maxillary central incisor (SMMCI) syndrome.

Authors:  Roger K Hall
Journal:  Orphanet J Rare Dis       Date:  2006-04-09       Impact factor: 4.123

3.  Solitary median maxillary central incisor syndrome: A rare entity.

Authors:  Anurag Negi; Amita Negi; Megha Mohanan
Journal:  J Oral Maxillofac Pathol       Date:  2020-09-09
  3 in total

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