Infant with multiple congenital anomalies and deletion (9)(q34.3).
We report on a male infant with developmental delay, growth failure, hypotonia, dolichocephaly, hypoplastic midface, epicanthal folds, down-slanting palpebral fissures, foveal hypoplasia, tracheomalacia, pectus excavatum, supraventricular tachycardia, gut malrotation, hypospadias, talipes equinovarus, short third metatarsals, capillary hemangiomata, and a de novo terminal deletion at 9q34.3.
Schimmenti
L A
LA
Department of Pediatrics, University of Minnesota, Minneapolis 55455.
Berry
S A
SA
Tuchman
M
M
Hirsch
B
B
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9; D002658:Developmental Disabilities / Q000235:genetics; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male