The acrocallosal syndrome, first described by Schinzel [1] and characterized by dysmorphic features, macrocephaly, Polydactyly, mental retardation, and agenesis of the corpus callosum, is reported in two unrelated boys with consanguineous parents from the Centre de Génétique Médicale, Service de Pediatrie Générale and Radiologie, Hôpital d'Enfants de la Timone, Marseille, France. An autosomal recessive mode of inheritance is suggested and echographic survey of further pregnancies is advised. Clinical manifestations included macrocephaly, bulging forehead, antimongoloid slant of eyes, broad short nose, posteriorly rotated ears, herniae, Polydactyly, cardiac defect, mental retardation and corpus callosal agenesis. [2]
COMMENT. Only 12 cases of the syndrome have been reported. Schinzel, who described the syndrome in 1979 and has at least 5 publications on the subject, deserves the eponym.