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Cerebro-oculofacio-skeletal Syndrome

ALAN D. MEASE, MC; GERALD B. MERESTEIN, MC
Am J Dis Child. 1977;131(12):1405. doi:10.1001/archpedi.1977.02120250087019.
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Sir.—An article by Preus et al (Am J Dis Child 131:62, 1977) describes a syndrome of skeletal, facial, and ocular anomalies, microcephaly, intrauterine growth retardation, and hypotonia in two infants associated with renal anomalies and oligohydramnios. The authors have attributed these features to the cerebrooculofacio-skeletal syndrome.1 Both of these infants died of respiratory failure. The overlap of features in these cases with Potter's syndrome was noted without mentioning a similarity to the syndrome of ankylosis, facial anomalies, and pulmonary hypoplasia.2-5 In one of these cases, there was histologic evidence of myoneural dysfunction.2 There are significant differences between these syndromes, ie, microcephaly and ocular anomalies. But the history of weak fetal movements, breech position, and diaphragmatic abnormalities in patient 1, severe hypotonia in patient 2, and multiple skeletal anomalies in both patients raises the possibility of fetal myoneural dysfunction.

Prenatal disease of the motor unit and/or fetal

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