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 Since new traits were encountered, we reviewed all reported patients and one unpublished case and compared the frequency rates of the individual manifestations.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.
References
Jan 1, 1977·The Journal of Pediatrics·L S LevinV A McKusick
Jun 1, 1991·Journal of Medical Genetics·G D Lang, I D Young
Jun 1, 1989·Journal of Medical Genetics·I D Young
Citations
Sep 29, 2001·Pediatric Dermatology·R ZannolliG Morgese
Jan 23, 2016·Journal of Human Genetics·Jung Min KoTae-Joon Cho
Apr 27, 2012·TheScientificWorldJournal·Rolanda A MaximTimothy J Fete
Sep 18, 2009·American Journal of Medical Genetics. Part a·Anastasia E KonstantinidouEfstratios Patsouris
Sep 18, 2009·American Journal of Medical Genetics. Part a·Andrew E FryDaniela T Pilz
Jul 14, 2012·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Celine Huber, Valerie Cormier-Daire
Oct 15, 2013·American Journal of Medical Genetics. Part a·Angela E LinHeleen H Arts
Sep 19, 2012·American Journal of Medical Genetics. Part a·Carlos A BacinoPenelope E Bonnen
Apr 25, 2015·Human Molecular Genetics·José A Caparrós-MartínVictor L Ruiz-Perez
Apr 9, 2011·American Journal of Human Genetics·Pleasantine MillDavid J Amor
Nov 5, 2013·American Journal of Human Genetics·Céline HuberValérie Cormier-Daire
Oct 25, 2011·American Journal of Human Genetics·Cecilie BredrupHeleen H Arts
Sep 8, 2010·American Journal of Human Genetics·Christian GilissenHan G Brunner
Oct 6, 2006·American Journal of Medical Genetics. Part a·Marco ZaffanelloFrancesco Emma
Feb 24, 2006·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Katsuyuki ObikaneSatoshi Sasaki
Oct 26, 2002·American Journal of Medical Genetics·R ZannolliS Gonnelli
Jan 25, 2002·American Journal of Medical Genetics·Shinya TamaiGen Nishimura
Jan 23, 2020·Japanese Journal of Radiology·Atsuhiko HandaGen Nishimura
Feb 20, 2021·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Thomas QuinauxFederico Di Rocco