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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.
American Journal of Medical Genetics
|June 27, 1997
Summary
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.