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The Seip Berardinelli or undiagnosed endocrine metabolic syndrome is a rare autosomal recessive pathology mainly described in families of Portuguese origins. This syndrome presents various metabolic disturbances responsible of various dysmorphies. We report the case of two brothers seen during their childhood for respiratory, speaking and feeding problems related to a class 3 of Angle and macroglossia. The object was to study the interaction between the size of the tongue, the prognathism and the disturbances presented in order to organize early surgery (partial glossectomy).

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., Material and 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., Discussion: 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.