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A pigmentary skin defect is a new finding in Marshall–Smith syndrome
Author(s) -
Passalacqua Cristóbal,
Melo Camila,
Martín Luz María,
Rojas Francisca,
Sanz Patricia,
Taucher Silvia Castillo,
Aranibar Ligia
Publication year - 2011
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.34076
Subject(s) - failure to thrive , dermatology , medicine , trunk , pediatrics , biology , ecology
Marshall–Smith Syndrome (OMIM 602535) was described initially by Marshall in two infants with a syndrome characterized by accelerated skeletal maturation, failure to thrive, and dysmorphic facial features. We report a new patient with clinical features of Marshall–Smith syndrome with additional findings such as hyperpigmented lines on trunk and the four extremities. © 2011 Wiley‐Liss, Inc.