title: Limb anomalies in DiGeorge and CHARGE syndromes.
abstract: Limb anomalies are not common in the DiGeorge or CHARGE syndromes. We describe limb anomalies in two children, one with DiGeorge and the other with CHARGE syndrome. Our first patient had a bifid left thumb, Tetralogy of Fallot, absent thymus, right facial palsy, and a reduced number of T-cells. A deletion of 22q11 was detected by fluorescence in situ hybridization (FISH). The second patient, with CHARGE syndrome, had asymmetric findings that included right fifth finger clinodactyly, camptodactyly, tibial hemimelia and dimpling, and severe club-foot. The expanded spectrum of the DiGeorge and CHARGE syndromes includes limb anomalies.
authors.affiliation: Division of Genetics, Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
authors.forename: C
authors.initials: C
authors.lastname: Prasad
authors.forename: E J
authors.initials: EJ
authors.lastname: Quackenbush
authors.forename: D
authors.initials: D
authors.lastname: Whiteman
authors.forename: B
authors.initials: B
authors.lastname: Korf
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002754:Choanal Atresia / Q000150:complications / Q000175:diagnosis; D002892:Chromosomes, Human, Pair 22; D003025:Clubfoot / Q000150:complications / Q000175:diagnosis; D003103:Coloboma / Q000150:complications / Q000175:diagnosis; D004062:DiGeorge Syndrome / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D004423:Ear / Q000002:abnormalities; D004480:Ectromelia / Q000150:complications / Q000175:diagnosis; D005260:Female; D005835:Genitalia / Q000002:abnormalities; D006130:Growth Disorders / Q000150:complications / Q000175:diagnosis; D006330:Heart Defects, Congenital / Q000150:complications / Q000175:diagnosis; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008297:Male; D017384:Sequence Deletion; D013576:Syndactyly; D013933:Thumb / Q000002:abnormalities