TORIELLO-CAREY SYNDROME - EVIDENCE FOR X-LINKED INHERITANCE

Toriello-Carey syndrome is characterized by agenesis of the corpus cal losum, telecanthus, short palpebral fissures, Robin sequence, abnormal ears, cardiac anomalies, and hypotonia. We describe two patients with Toriello-Carey syndrome and call attention to an unbalanced sex ratio . The first patient, a male, was born at term by Cesarean section and manifests micrognathia, cleft soft palate, hypoplastic right ear, anot ia on the left side, cerebellar vermis hypoplasia, hydrocephalus, agen esis of the corpus callosum, and hypoplastic left heart. He died 2 day s after birth. The second patient is the male sib of a patient reporte d previously [Am J Med Genet 42: 374-376; 1992]. He had large fontanel les, telecanthus, a short nose, small and malformed ears, micrognathia , a large ventricular septal defect, and pulmonary stenosis. At age 8 months he has growth retardation and developmental delay. A sister is unaffected. Review documented eight other patients with Toriello-Carey syndrome, six of whom were male. The two female patients are less sev erely affected and are still alive. Of the other male patients, all ar e deceased except one who is still alive at age 5 years; he has severe growth retardation (-3 SD), mental retardation (DQ44), severe speech delay, and characteristic anomalies. The predominance of affected male s and the milder phenotype in the female patients suggests an X-linked gene or sex influenced gene. (C) 1996 Wiley-Liss, Inc.