A new recessive syndrome with VATER-like defects, pulmonary hypertension, abnormal ears, blue sclera, laryngeal webs, and persistent growth deficiency.
VATER association is a term frequently used to describe children with multiple malformations. However, occasionally these children have malformations that are not typical of VATER defects and may represent unique multiple malformation syndromes with specific prognoses and recurrence risks. Two siblings with a heretofore previously undescribed multiple malformation syndrome are presented whose features include vertebral defects, cardiac abnormalities, pulmonary hypertension, laryngeal webs, blue sclerae, and persistent growth deficiency. Autosomal recessive inheritance is suggested. These cases suggest that other individuals labeled VATER association with multiple other defects should be reviewed more closely to give accurate prognosis and recurrence risk information to families.
Braddock
Stephen R
SR
Division of Medical Genetics, Metabolism and Dysmorphology, Department of Child Health, University of Missouri School of Medicine, Columbia, Missouri 65212, USA. BraddockS@missouri.edu
D000015:Abnormalities, Multiple / Q000235:genetics*; D004423:Ear / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D006976:Hypertension, Pulmonary / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D007830:Larynx / Q000002:abnormalities; D008297:Male; D012590:Sclera / Q000002:abnormalities; D013577:Syndrome