Partington-Anderson Syndrome

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2019-09-22
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In a brother and sister from one family and a girl from a second, unrelated family, Partington and Anderson (1994) described a seemingly new syndrome comprising pre- and postnatal growth deficiency, developmental delay, a friendly personality, microcephaly, and a distinctive facial appearance marked by thick eyebrows, full cheeks, and a short nose with the columella inserted below the nasal alae. They suggested that the disorder is inherited as an autosomal recessive. The parents were not consanguineous in either family. Thick curly hair of the head in infancy may be a feature.