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Absent digit in Russell-Silver syndrome: expanding the clinical spectrum of a well known syndrome.

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Introduction Russell-Silver syndrome (RSS, OMIM 180860) is a prenatal-onset growth insufficiency syndrome characterized by intrauterine growth restriction, postnatal growth failure, relative macrocephaly, frontal bossing, asymmetry, and feeding difficulty (Silver et… Click to show full abstract

Introduction Russell-Silver syndrome (RSS, OMIM 180860) is a prenatal-onset growth insufficiency syndrome characterized by intrauterine growth restriction, postnatal growth failure, relative macrocephaly, frontal bossing, asymmetry, and feeding difficulty (Silver et al., 1953; Russell, 1954; Wakeling et al., 2017). Associated features include triangular faces, blue sclera, café-aulait spots, and genital malformations. Hand and digit anomalies have also been described, classically fifth finger brachyclinodactyly, although more involved malformations have been reported (reviewed in Moss and Switzer, 1983).

Keywords: absent digit; silver syndrome; russell silver; syndrome expanding; digit russell

Journal Title: Clinical Dysmorphology
Year Published: 2019

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