| The association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. It has been described in five patients (three boys and two girls). The clinical manifestations are evident from birth. The palate anomaly is usually cleft palate. In the majority of cases, postnatal growth is marked by statural and ponderal retardation. Microcephaly is present in all patients.Persistent hyperplastic primary vitreous was present in all cases reported so far. Facial dysmorphology has characteristics of full cheeks, a bulbous nasal tip and long ears with thickened helices. Hands and feet are small. Anomalies of the external genitalia were reported in some of the male patients, with two of the boys displaying cryptorchidism. Skeletal anomalies include pectus excavatum, joint hyperlaxity and kyphoscoliosis. Intellectual deficit (moderate to severe) is a constant feature. So far, neither a causative gene nor locus has been identified. |
