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Two Dutch brothers with Borrone dermato‐cardio‐skeletal syndrome
Author(s) -
van Steensel M.A.M.,
Ceulen R.P.M.,
Delhaas T.,
de DieSmulders C.
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31719
Subject(s) - medicine , vertebral column , mitral valve prolapse , dermatology , acne , pediatrics , surgery , mitral valve
In 1993, Borrone et al. described two Italian brothers affected by a syndrome of severe acne, mitral valve prolapse, dysmorphic facies, and Scheuermann‐like changes of the vertebral column. Since then, no further cases have been reported. Here, we report on two Dutch brothers with many features suggestive of this rare syndrome. © 2007 Wiley‐Liss, Inc.