22q11 deletion syndrome and limb anomalies: report on two Brazilian patients.
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.


CONCLUSIONS
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.
Kokitsu-Nakata
Nancy Mizue
NM
Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, São Paulo, Brazil. nancykn@centrinho.usp.br
Guion-Almeida
Maria Leine
ML
Richieri-Costa
Antonio
A
D002648:Child; D002658:Developmental Disabilities / Q000235:genetics; D004062:DiGeorge Syndrome / Q000175:diagnosis* / Q000235:genetics; D005385:Fingers / Q000002:abnormalities; D005500:Follow-Up Studies; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D008297:Male; D013576:Syndactyly / Q000235:genetics; D014034:Toes / Q000002:abnormalities; D014681:Velopharyngeal Insufficiency / Q000235:genetics