Artículos de revistas
22q11 deletion syndrome and limb anomalies: Report on two Brazilian patients
Fecha
2008Registro en:
CLEFT PALATE-CRANIOFACIAL JOURNAL, v.45, n.5, p.561-566, 2008
1055-6656
10.1597/06-170.1
Autor
KOKITSU-NAKATA, Nancy Mizue
GUION-ALMEIDA, Maria Leine
RICHIERI-COSTA, Antonio
Institución
Resumen
Objective: To report on two Brazilian patients with chromosome 22q11 deletion who presented with velopharyngeal insufficiency, congenital heart anomalies, developmental delay, and limb anomalies. The pattern of limb anomalies in these patients, which range from ectrodactyly to limb synostosis, is very uncommon in 22q11 deletion syndrome. Conclusion: These patients widen the spectrum of clinical signs of the 22q11 deletion syndrome and alert researchers to conduct additional investigation in patients with limb involvement with velopharyngeal insufficiency and/or cardiac anomalies, along with developmental delay.