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Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome)
M J Amar1, R Sutphen, B G Kousseff
1Division of Medical Genetics, Department of Pediatrics, University of South Florida, Tampa 33617-3451, USA.
Insights
Cranioectodermal dysplasia (CED) is a rare genetic disorder. This study identifies new symptoms like growth deficiency and abnormal calcium levels, aiding in earlier diagnosis of CED.
Area of Science:
- Genetics
- Pediatrics
- Dermatology
Background:
- Cranioectodermal dysplasia (CED) is an autosomal recessive disorder.
- It involves defects in ectoderm-derived structures and bone anomalies.
Observation:
- A 27-month-old girl presented with CED, growth retardation, microcephaly, corpus callosum hypoplasia, photophobia, and abnormal calcium homeostasis.
- Review of existing and new cases identified consistent dolichocephaly and rhizomelia.
Findings:
- Ectodermal dysplasia manifestations in CED are variable.
- Previously unreported anomalies include growth deficiency, delayed psychomotor development, microcephaly, photophobia, and abnormal calcium homeostasis.
- Short thorax and heart defects are inconsistent findings.
Implications:
- Recognizing these expanded clinical manifestations can aid in the diagnosis of Cranioectodermal dysplasia.
- This research contributes to a better understanding of CED's phenotypic spectrum.
Abstract:
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 Since new traits were encountered, we reviewed all reported patients and one unpublished case and compared the frequency rates of the individual manifestations. The findings present in all patients are dolichocephaly and rhizomelia. Ectodermal dysplasia manifestations are variable. Short thorax and heart defect are inconsistent. Previously unreported anomalies include growth deficiency, delayed psychomotor development, microcephaly, photophobia, and abnormal calcium homeostasis. These clinical manifestations may facilitate the diagnosis of this condition.