title: A pigmentary skin defect is a new finding in Marshall-Smith syndrome.
abstract: 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.
authors: Sección Genética, Departamento de Medicina, Hospital Clínico Universidad de Chile, Chile.
authors: Cristóbal
authors: C
authors: Passalacqua
authors: Camila
authors: C
authors: Melo
authors: Luz María
authors: LM
authors: Martín
authors: Francisca
authors: F
authors: Rojas
authors: Patricia
authors: P
authors: Sanz
authors: Silvia Castillo
authors: SC
authors: Taucher
authors: Ligia
authors: L
authors: Aranibar
mesh_terms: D000005:Abdomen / Q000473:pathology; D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000473:pathology; D001415:Back / Q000473:pathology; D001848:Bone Diseases, Developmental / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D019465:Craniofacial Abnormalities / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D002658:Developmental Disabilities / Q000175:diagnosis; D005121:Extremities / Q000473:pathology; D005260:Female; D006801:Humans; D017495:Hyperpigmentation / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D007223:Infant; D025962:Septo-Optic Dysplasia / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D012867:Skin / Q000473:pathology; D013909:Thorax / Q000473:pathology