Document Detail

Ambras syndrome: delineation of a unique hypertrichosis universalis congenita and association with a balanced pericentric inversion (8) (p11.2; q22)
MedLine Citation:
PMID:  8275569     Owner:  NLM     Status:  MEDLINE    
Congenital hypertrichosis universalis is a rare autosomal dominant disease. We report the further development of a Greek girl, now aged 3 years, the first case associated with a balanced structural chromosomal aberration. She was described as a neonate by Sigalas et al. (1990). Her persistent generalized hypertrichosis is most excessive on the face, ears and shoulders. Her fine silky hair is of the vellus, not the lanugo type. The syndrome features are characterized, referring to nine further published case reports. It is distinguished from other types of congenital hypertrichoses, which have been described in the literature under different synonyms. To avoid confusion in the terminology, we propose to name this type of hypertrichosis Ambras syndrome in reference to the first documented family with congenital hypertrichosis universalis in the 16th century.
F A Baumeister; J Egger; M T Schildhauer; S Stengel-Rutkowski
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Clinical genetics     Volume:  44     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1993 Sep 
Date Detail:
Created Date:  1994-02-09     Completed Date:  1994-02-09     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  121-8     Citation Subset:  IM    
Dr. v. Haunersches Kinderspital, Universität München, Germany.
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MeSH Terms
Child, Preschool
Chromosome Inversion*
Chromosomes, Human, Pair 8*
Facial Bones / abnormalities*
Fingers / abnormalities
Hypertrichosis / congenital,  genetics*
Nipples / abnormalities*
Terminology as Topic
Comment In:
Clin Genet. 1994 Nov;46(5):384   [PMID:  7889653 ]

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