Cranioectodermal dysplasia (CED) is a rare Developmental disorder characterized by Congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic Fibrosis and Ocular anomalies (mainly retinitis pigmentosa).
Additional InformationThe rare association of dolichocephaly (with or without sagittal suture synostosis), sparse, slow-growing, fine hair, epicanthal folds, hypodontia and/or microdontia, brachydactyly, and narrow thorax was described in total in 15 cases, including a set of monozygotic Female twins and 4 pairs of sibs. Intelligence was normal in all cases, except in one of them who presented also pre- and postnatal growth retardation, microcephaly, hypoplasia of the posterior corpus callosum, and aberrant Calcium homeostasis. Follow-up was described in some of the affected infants who developed vision anomalies, Chronic renal failure, and Respiratory infections. Visual deficits are due to a symptomatic photoreceptor dystrophy with photophobia, and electroretinography shows gross abnormalities. Elevated serum creatinine shows Chronic renal Failure due to tubulointerstitial nephropathy. Four of the reported patients died by age 7 years, one of Heart failure, one of Interstitial pneumonitis, one of Respiratory Failure shortly after Birth as a result of severe Thoracic hypoplasia, and the fourth of unknown cause. The absence of any demonstrable ultrasonographic abnormality until the third trimester of gestation makes prenatal Diagnosis difficult. The affection is likely to be of autosomal recessive inheritance.
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