ABSTRACT
We report on three unrelated patients with the 22q11.2 microdeletion syndrome (del22q11) who have phenotypic anomalies compatible with oculo-auriculo-vertebral spectrum (OAVS). Hemifacial microsomia, unilateral microtia, hearing loss, congenital heart/aortic arch arteries defects, and feeding difficulties were present in all three patients. Additional anomalies occasionally diagnosed included coloboma of the upper eyelid, microphthalmia, cerebral malformation, palatal anomalies, neonatal hypocalcemia, developmental delay, and laryngomalacia. Several clinical features characteristic of OAVS have been described in patients with del22q11 from the literature, including ear anomalies, hearing loss, cervical vertebral malformations, conotruncal cardiac defects, renal malformations, feeding and respiratory difficulties. Atretic ear with facial asymmetry has been previously described in one patient. Thus, clinical expression of hemifacial microsomia and microtia resembling OAVS should now be included within the wide phenotypic expression of del22q11. The occurrence of this manifestation in del22q11 is currently low. Nevertheless, patients with hemifacial microsomia and microtia associated with clinical features typically associated with del22q11 should now have for specific cytogenetic testing.
Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 22/genetics , Goldenhar Syndrome/genetics , Adult , Facies , Female , Humans , Infant , Infant, Newborn , Male , PregnancyABSTRACT
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Subject(s)
Humans , Verbal Behavior , Communication , Anniversaries and Special EventsABSTRACT
Children in foster care have lower health status than do their peers and limited access to health care. The Illinois Department of Children and Family Services developed HealthWorks, a separate primary care preferred provider system for children in foster care. This study compared claims data for children in HealthWorks with children not enrolled in HealthWorks and with children in Aid to Families with Dependent Children (AFDC) who had never entered foster care. Children enrolled in HealthWorks were more likely than were other children to receive all of the services except general inpatient hospitalizations. They had greater odds of receiving general exams and physicians' services and were more likely to visit the emergency room than children who were not enrolled. They were more likely to receive all of the measured services when compared with children receiving Medicaid through AFDC.
