Amar M J, Sutphen R, Kousseff B G
Division of Medical Genetics, Department of Pediatrics, University of South Florida, Tampa 33617-3451, USA.
Am J Med Genet. 1997 Jun 27;70(4):349-52. doi: 10.1002/(sici)1096-8628(19970627)70:4<349::aid-ajmg3>3.0.co;2-o.
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 Since new traits were encountered, we reviewed all reported patients and one unpublished case and compared the frequency rates of the individual manifestations.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.
颅外胚层发育不良（CED）是一种常染色体隐性疾病，其特征为外胚层衍生结构缺陷和特征性骨骼异常。我们报告了一名27个月大的患有CED的白种女孩，她存在产前和产后生长发育迟缓、小头畸形、胼胝体后部发育不全、畏光和钙稳态异常。由于发现了新的特征，我们回顾了所有已报道的患者和1例未发表的病例，并比较了各个表现的发生率。所有患者共有的表现为长头畸形和肢体近侧短小。外胚层发育不良的表现具有变异性。胸廓短和心脏缺陷并不一致。先前未报道的异常包括生长发育不足、精神运动发育迟缓、小头畸形、畏光和钙稳态异常。这些临床表现可能有助于该病的诊断。
