Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome)
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 Since new traits were encountered, we reviewed all reported patients and one unpublished case and compared the frequency rates of the individual manifestations.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.
Amar
M J
MJ
Division of Medical Genetics, Department of Pediatrics, University of South Florida, Tampa 33617-3451, USA.
Sutphen
R
R
Kousseff
B G
BG
D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging; D006197:Hair / Q000002:abnormalities; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D010281:Parathyroid Hormone / Q000097:blood; D010641:Phenotype; D011859:Radiography; D013909:Thorax / Q000002:abnormalities; D014071:Tooth Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics
D010281:Parathyroid Hormone