Collagenopathy with a phenotype resembling silver-russell syndrome phenotype

Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous disorder characterized by intrauterine and postnatal growth retardation, relative macrocephaly, characteristic triangular face, body asymmetry, and mild facial dysmorphisms [Wakeling, 2011]. Maternal uniparental disomy of ch...

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Veröffentlicht in:	American journal of medical genetics. Part A 2013-10, Vol.161A (10), p.2681-2684
Hauptverfasser:	Cianci, Paola, Paterlini, Giuseppe, Tagliabue, Paolo, Verderio, Maria, Vergani, Patrizia, Bianchi, Maria Luisa, Giussani, Carlo, Kullmann, Gaia, Mazzoleni, Fabio, Bozzetti, Alberto, Selicorni, Angelo
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Bone and Bones - diagnostic imaging Bone and Bones - pathology Facies Female Humans Infant, Newborn Magnetic Resonance Imaging Phenotype Pregnancy Radiography Silver-Russell Syndrome - diagnosis Ultrasonography, Prenatal
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Beschreibung
Zusammenfassung:	Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous disorder characterized by intrauterine and postnatal growth retardation, relative macrocephaly, characteristic triangular face, body asymmetry, and mild facial dysmorphisms [Wakeling, 2011]. Maternal uniparental disomy of chromosome 7 (UPD7) is reported in 10% of SRS patients, and hypomethylation of the IGF2/H19 imprinting center on chromosome 11p15 in 30-60% of patients [Bruce et al., 2009].
ISSN:	1552-4825 1552-4833
DOI:	10.1002/ajmg.a.36093