Abstract:
:Three female patients with Cantu syndrome were studied, two of whom were adults presenting with the complication of lymphoedema, as described earlier in a male patient with this syndrome. The aim of this study is to report the clinical characteristics of these three new cases and to emphasize that lymphoedema, as observed in two of the patients described here, has been observed in 11.5% of patients with Cantu syndrome and that heterochromia iridis, observed in one patient, is probably a new feature of this condition.
journal_name
Clin Dysmorpholjournal_title
Clinical dysmorphologyauthors
García-Cruz D,Mampel A,Echeverria MI,Vargas AL,Castañeda-Cisneros G,Davalos-Rodriguez N,Patiño-Garcia B,Garcia-Cruz MO,Castañeda V,Cardona EG,Marin-Solis B,Cantu JM,Nuñez-Reveles N,Moran-Moguel C,Thavanati PK,Ramirez-Garciadoi
10.1097/MCD.0b013e32833d015csubject
Has Abstractpub_date
2011-01-01 00:00:00pages
32-7issue
1eissn
0962-8827issn
1473-5717journal_volume
20pub_type
杂志文章abstract::We report a 16 year old African American female with an interstitial deletion of chromosome 13 comprising approximately 40% of the long arm of this chromosome [karyotype 46,XX, del(13)(q14.12q31.2)]. We believe that this case is interesting because of the large size of the chromosome deletion, the severe growth retard...
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journal_title:Clinical dysmorphology
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journal_title:Clinical dysmorphology
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journal_title:Clinical dysmorphology
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journal_title:Clinical dysmorphology
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