Article
Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome)
American journal of medical genetics - 27 Jun 1997
Amar M J, Sutphen R, Kousseff B G
Abstract excerpt
Cranioectodermal dysplasia (CED) is an autosomal recessive condition characterized by defects of ectoderm-derived structures and characteristic bone anomalies. We report on a 27-month-old Caucasian girl with CED, pre- and postnatal growth retardation, microcephaly, hypoplasia of the posterior corpus callosum, photophobia, and aberrant calcium homeostasis. Since new traits were encountered, we reviewed all...
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