247 major malformations and associated medical problems of each infant are summarized in the Table. Seven pa- tients had CHD. Two had anatomic defects of the palate. Four patients had neither congenital heart disease nor cleft palate (33%) (cases 2, 3, 10, and 12). Six patients required evaluation for cyanotic episodes as newborns (cases 1, 2, 5, 8, 10, and 12). In 2 cases, cyanosis was attributed to CHD. Two patients were evaluated for unex- plained single cyanotic episodes that occurred at home. Two patients had mild upper airway obstruction as demonstrated by polysomnography. One patient had chronic lung disease secondary to prolonged intubation and complications of tracheal web, and one had observed obstructive apnea in the perinatal period secondary to micro- gnathia (Pierre Robin sequence). Respiratory illnesses were common. Six patients (cases 2, 5, 6, 7, 9, and 10) required hospitalization for presumed viral respiratory illnesses at ages 3 weeks to 10 months. Four patients had intermittent wheezing with onset from 5 to 10 months (cases 2, 5, 7, and 10). Feeding difficulties and nutritional status led to interventions in 9 patients (cases 1, 2, 4, 5, 6, 7, 9, 10, and 12). Most of the feeding interventions were initiated in the perinatal period and managed adequately in an outpatient Velocardiofacial syndrome is a domi- nantly inherited contiguous gene syn- drome associated with congenital heart defects, palatal abnormalities, and learning disorders. 1 The incidence of this disorder is estimated at 1/5000 births. 2 Molecular analysis with fluo- rescence in situ hybridization or poly- merase chain reaction reveals a mi- crodeletion of chromosome 22q11.2 in the majority of cases. With the advent of sensitive and reliable diagnostic testing, a greater number of patients are being identified in infancy. We ret- rospectively reviewed the medical records of patients diagnosed with VCFS during infancy and discovered Increased need for medical interventions in infants with velocardiofacial (deletion 22q11) syndrome Robert J. Hopkin, MD, Elizabeth K. Schorry, MD, Mary Bofinger, MD, and Howard M. Saal, MD a surprisingly high need for medical in- terventions and hospitalization. METHODS A database of all patients seen in the Division of Human Genetics at Chil- dren’s Hospital Medical Center was searched for patients diagnosed with VCFS before age 1 year and confirmed by deletion 22q11.2. Specific data identified for each patient included age at diagnosis, range and extent of med- ical problems, and number of hospital- izations during the first year of life. RESULTS Fluorescence in situ hybridization– proven deletion 22q11.2 was identified in 45 patients; 12 of these patients were diagnosed before the age of 1 year. Age at diagnosis ranged from birth to 9 months, and 6 patients were diagnosed in the first postpartum week. The From the Division of Human Genetics and the Cranio- facial Center, Children’s Hospital Medical Center, Cincinnati, Ohio. Submitted for publication Apr 19, 1999; revi- sions received Sept 29, 1999, and Mar 28, 2000; accepted Apr 19, 2000. Reprint requests: Robert J. Hopkin, MD, Children’s Hospital Medical Center, Division of Human Genetics, 3333 Burnet Ave, Cincinnati OH 45229. Copyright © 2000 by Mosby, Inc 0022-3476/2000/$12.00 + 0 9/22/108272 doi:10.1067/mpd.2000.108272 CHD Congenital heart defects VCFS Velocardiofacial syndrome Ten of 12 patients diagnosed with deletion 22q11.2 in infancy required a total of 26 hospitalizations during their first year of life. After heart disease, feeding and respiratory problems were the most frequent reasons for inter- vention. (J Pediatr 2000;137:247-9) See related articles, p. 145 and p. 158. CLINICAL AND LABORATORY OBSERVATIONS