Long-term evaluation of a child with the branchio-oculo-facial syndrome.
We report on the 12-year development of a child with branchio-oculo-facial syndrome who was initially referred at age 5 months. Of note is his normal intelligence, regular class placement, hypernasal speech, and continued growth along the third centile. The importance of serial observations of patients with rare genetic disorders is emphasized.
Schmerler
S
S
Department of Pediatrics, St. Joseph's Hospital and Medical Center, Paterson, New Jersey.
Kushnick
T
T
Desposito
F
F
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001934:Branchial Region / Q000002:abnormalities*; D002648:Child; D005145:Face / Q000002:abnormalities*; D005799:Genes, Dominant; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008297:Male; D013577:Syndrome; D013997:Time Factors