Cranioectodermal dysplasia: a probable ciliopathy.
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.
Konstantinidou
Anastasia E
AE
Department of Pathology, National Kapodistrian University Medical School, Athens, Greece. ankon@med.uoa.gr
Fryssira
Helen
H
Sifakis
Stavros
S
Karadimas
Charalampos
C
Kaminopetros
Petros
P
Agrogiannis
Georgios
G
Velonis
Stylianos
S
Nikkels
Peter G J
PG
Patsouris
Efstratios
E
D037881:Aborted Fetus / Q000473:pathology; D002648:Child; D002923:Cilia / Q000473:pathology; D019465:Craniofacial Abnormalities / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D004476:Ectodermal Dysplasia / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D005260:Female; D006801:Humans; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D035781:Siblings