CLEIDOCRANIAL DYSPLASIA WITH NEONATAL DEATH DUE TO CENTRAL-NERVOUS-SYSTEM INJURY IN-UTERO - CASE-REPORT AND LITERATURE-REVIEW

Cleidocranial dysplasia (CCD), an uncommon disorder involving membrano us bones, is rarely lethal in early life. The calvaria is defective an d wormian bones are present. Abnormalities of the clavicles vary in se verity from a minor unilateral defect to bilateral absence. This repor t concerns pre- and postmortem anatomical and radiological findings in a 15-day-old female neonate with CCD. Her postnatal course was charac terized by seizures and recognition of hydrocephalus during the first day of life. The calvaria was hypoplastic with numerous wormian bones. A pseudofracture of the light clavicle was present. Hydrocephalus was present in the brachycephalic brain which had a severely thinned cere bral cortex. Hemosiderin in the ventricular lining and marked subepend ymal gliosis were interpreted as evidence of old intraventricular hemo rrhage that had occurred in utero. A CCD-related condition, Yunis-Varo n syndrome (YVS), is noted For early lethality and for developmental a nd secondary abnormalities of the central nervous system. The present case only partially matches the phenotype of WS and might represent a part of a spectrum of phenotypic variants ranging fi om viable CCD to lethal YVS.