Literature DB >> 8169270

Congenital atrichia, palmoplantar hyperkeratosis, mental retardation, and early loss of teeth in four siblings: a new syndrome?

P M Steijlen1, H A Neumann, D J der Kinderen, D F Smeets, P C van der Kerkhof, R Happle.   

Abstract

A syndrome of congenital atrichia, palmoplantar hyperkeratosis, mental retardation, and early loss of teeth was observed in four siblings (three women and one man). The pedigree is suggestive of either an autosomal recessive mode of inheritance or the inheritance of a (small) chromosomal translocation. This combination of findings has not been previously reported and is therefore considered to be a new genetic entity.

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Year:  1994        PMID: 8169270     DOI: 10.1016/s0190-9622(94)70108-3

Source DB:  PubMed          Journal:  J Am Acad Dermatol        ISSN: 0190-9622            Impact factor:   11.527


  2 in total

Review 1.  Congenital atrichia and hypotrichosis.

Authors:  Antoni Bennàssar; Juan Ferrando; Ramon Grimalt
Journal:  World J Pediatr       Date:  2011-05-15       Impact factor: 2.764

2.  Congenital atrichia associated with nevus flammeus: A rare association.

Authors:  Ep Raj Kirit; Anchala Parthasaradhi
Journal:  Indian Dermatol Online J       Date:  2014-10
  2 in total

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