[Establishing a new severity score for EEC: ectrodactyly-ectodermal dysplasia-cleft lip and palate].
BACKGROUND
EEC (ectodactyly-ectodermal dysplasia-cleft lip and palate) is a rare disease transmitted by autosomal dominant inheritance with variable penetrance and weak expressivity. Clinical expression is thus very variable. Besides the three signs defining the syndrome, other manifestations include anomalous lacrimal ducts, urogenital malformations, transmission deafness, facial dysmorphism, and mental retardation. In 1995, Roelfsema and Cobben established a severity score on the basis of data in the literature.


METHODS
We analyzed retrospectively the cases of 5 patients followed from 1980 to 2000 in two University Hospitals in France. Malformations were detailed and the Roelfsema and Cobben score was calculated. The real degree of disability was estimated from social activity level. We searched for a correlation between the Roelfsema and Cobben score and the real degree of disability.


RESULTS
Our findings showed a poor correlation between disability and the Roelfsema and Cobben score. We proposed a new score which takes into account social disability.


CONCLUSIONS
Our study revealed that the Roelfsema and Cobben score overly emphasizes anatomic malformations without taking into account natural adaptation to the social environment. Inversely, the Roelfsema and Cobben score gives little importance to invisible anomalies despite their invalidating effect.
Danino
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Service de Chirurgie plastique et Maxillo-Facial, Hôpital Général, CHU de Dijon, 3, rue du Faubourg Raine, 21000 Dijon.
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Plauchu
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Malka
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D000015:Abnormalities, Multiple / Q000145:classification / Q000473:pathology*; D000223:Adaptation, Psychological; D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D002971:Cleft Lip / Q000473:pathology; D002972:Cleft Palate / Q000473:pathology*; D004476:Ectodermal Dysplasia / Q000473:pathology*; D005532:Foot Deformities, Congenital / Q000473:pathology*; D006228:Hand Deformities, Congenital / Q000473:pathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D012720:Severity of Illness Index; D013577:Syndrome