Abstract:Exame físico realizado aos 6 meses de idade revelou relativa obesidade (7600 gramas) para a baixa estatura (64 cm), fácies sindrômica, microcefalia (PO=36cm), orelhas grandes, pescoço curte com pele redundante, fontanela anterior pequena (Fig. 1). O paciente também apresentava discreta hipertonia nos 4 membros e reflexo cutâneo-plantar em extensão. As
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