Τίτλος:
Cranioectodermal dysplasia: A probable ciliopathy
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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.
Συγγραφείς:
Konstantinidou, A.E.
Fryssira, H.
Sifakis, S.
Karadimas, C.
Kaminopetros, P.
Agrogiannis, G.
Velonis, S.
Nikkels, P.G.J.
Patsouris, E.
Περιοδικό:
American Journal of Medical Genetics. Part A
Λέξεις-κλειδιά:
anhidrosis; article; autosomal recessive disorder; case report; cavallazzi syndrome; child; cranioectodermal dysplasia; craniofacial malformation; dysplasia; female; fetus; human; interstitial nephritis; kidney cyst; kidney failure; posterior fossa; priority journal; school child; skeleton malformation; syndrome, Aborted Fetus; Child; Cilia; Craniofacial Abnormalities; Ectodermal Dysplasia; Female; Humans; Pregnancy; Pregnancy Trimester, Second; Siblings
DOI:
10.1002/ajmg.a.33013
