title: Severe hemihypotrophy in a female infant with mosaic Turner syndrome: a variant of Russell-Silver syndrome?
abstract: Russell-Silver syndrome is a genetically heterogeneous condition. For most affected individuals, it represents a phenotype rather than a specific disorder. Although chromosomal anomalies, imprinting disorder, maternal uniparental disomy 7 as well as familial autosomal dominant and X-linked forms have been reported, the diagnosis remains determined on clinical grounds. Russell-Silver syndrome is characterized by asymmetric intrauterine growth retardation, postnatal failure to thrive, distinct facial features, limb asymmetry, excessive sweating and minor skin lesions. We report here a female infant who had a karyotype of 45,X on prenatal amniocytes. After delivery she was noted to have features not explainable on the basis of Turner syndrome. Her phenotype actually was quite consistent with Russell-Silver syndrome. She had a triangular face with prominent forehead, large eyes, a thin nose, malar hypoplasia, thin upper lip with down-turned corner of the mouth and a pointed chin. Marked body asymmetry was evident at birth, with the left side significantly smaller than the right side. She has a diphalangeal left fifth finger. Skin fibroblast culture and analysis showed a karyotype of 45,X on the right side and 45,X/46,XX on the left side. The case is another illustration of the genetic heterogeneity of Russell-Silver phenotype.
authors.affiliation: Department of Pediatrics and Child Health Department of Biochemistry and Medical Genetics, University of Manitoba Cytogenetics Laboratory, Division of Laboratory Medicine and Pathology, Health Sciences Center, Winnipeg, Canada.
authors.forename: Chumei C
authors.initials: CC
authors.lastname: Li
authors.forename: Bernard N
authors.initials: BN
authors.lastname: Chodirker
authors.forename: Angelika J
authors.initials: AJ
authors.lastname: Dawson
authors.forename: Albert E
authors.initials: AE
authors.lastname: Chudley
mesh_terms: D005260:Female; D014644:Genetic Variation; D006801:Humans; D007223:Infant; D009030:Mosaicism; D013577:Syndrome; D014424:Turner Syndrome; D024182:Uniparental Disomy