Premium
Cranioectodermal dysplasia: A probable ciliopathy
Author(s) -
Konstantinidou Anastasia E.,
Fryssira Helen,
Sifakis Stavros,
Karadimas Charalampos,
Kaminopetros Petros,
Agrogiannis Georgios,
Velonis Stylianos,
Nikkels Peter G.J.,
Patsouris Efstratios
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33013
Subject(s) - ciliopathies , congenital hepatic fibrosis , multicystic dysplastic kidney , polydactyly , craniofacial , renal dysplasia , medicine , pathology , anatomy , autosomal recessive polycystic kidney disease , ciliopathy , dysplasia , cyst , biology , kidney , portal hypertension , cirrhosis , genetics , polycystic kidney , psychiatry , gene , phenotype
Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive genetic disorder characterized by typical craniofacial, skeletal and ectodermal defects, and tubulointerstitial nephritis leading to early end‐stage renal failure. We report on a new familial case of a 9‐year‐old patient and two fetuses of 23 and 19 weeks of gestation respectively. Hypohidrosis was an additional ectodermal finding is the patient with CED. Postmortem findings in the two fetuses included acromesomelic shortening, craniofacial characteristics with absence of craniosynostosis, small kidneys with tubular and glomerular microscopic cysts, persistent ductal plate with portal fibrosis in the liver, small adrenals and roughly unremarkable histopathology of the physeal growth plate. Posterior fossa anomalies were additional findings in this patient and included an enlarged cisterna magna and a posterior fossa cyst. The above findings, in association with renal cysts, persistent ductal plate and portal fibrosis, introduce CED, a nonlethal genetic skeletal disorder of yet unknown molecular origin, as a possible member of the expanding group of ciliopathies. © 2009 Wiley‐Liss, Inc.