phenylephrine-hydrochloride and Tetralogy-of-Fallot

We report on a 14-month-old girl with bifid nasal tip and tetralogy of Fallot. Several similar patients have been described with CNS or eye abnormalities. Chromosome analysis with FISH, using Oncor DiGeorge probes, confirmed a submicroscopic deletion of 22q11. Many patients with Shprintzen (velo-cardio-facial) syndrome have a similar deletion with conotruncal cardiac defects and an abnormal nasal shape, suggesting that a gene in this area, possibly affecting neural crest cells, influences facial and other midline development.

Topics: Chromosome Deletion; Chromosomes, Human, Pair 22; Female; Humans; Infant, Newborn; Nose; Tetralogy of Fallot

Three children with frontonasal dysplasia associated with tetralogy of Fallot are reported. All cases had true hypertelorism and a median nasal groove with absence of the nasal tip. There was no mental deficiency. The facial anomaly is a sporadic, non-genetic interference of the normal development of the face. This is the first report of frontonasal dysplasia associated with a cardiac defect. Multifactorial inheritance of this syndrome is proposed.

Topics: Abnormalities, Multiple; Bone Diseases, Developmental; Child; Female; Humans; Hypertelorism; Infant; Male; Nose; Tetralogy of Fallot

Topics: Chromosomes, Human, 13-15; Cleft Lip; Cleft Palate; Female; Humans; Infant; Infant, Newborn; Karyotyping; Male; Microphthalmos; Nose; Tetralogy of Fallot; Trisomy