different clinical phenotypes in adams-oliver syndrome conservative approach to aplasia cutis a report of two cases不同的临床表型adams-oliver发育不全综合征保守的态度,皮肤两种情况的报告.pdfVIP

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different clinical phenotypes in adams-oliver syndrome conservative approach to aplasia cutis a report of two cases不同的临床表型adams-oliver发育不全综合征保守的态度,皮肤两种情况的报告.pdf

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different clinical phenotypes in adams-oliver syndrome conservative approach to aplasia cutis a report of two cases不同的临床表型adams-oliver发育不全综合征保守的态度,皮肤两种情况的报告

International Journal of Clinical Medicine, 2012, 3, 215-219 215 / 10.4236/ijcm.2012.33042 Published Online May 2012 (http://www.SciRP.org/journal/ijcm) Different Clinical Phenotypes in Adams-Oliver Syndrome Conservative Approach to Aplasia Cutis: A Report of Two Cases 1* 1* 2 1 1,3 Francesca Dini , Cristina Tuoni , Andrea Nannipieri , Sara Lunardi , Rosa Teresa Scaramuzzo , Laura D’Accavio1 1 4 1 1,5# , B. Kuppers , A. Valetto , A. Bartalena , Antonio Boldrini, Paolo Ghirri 1 2 Neonatology Unit, Mother and Child Department, University Hospital of Pisa, Pisa, Italy; Dermatology Unit, University Hospital of Pisa, Pisa, Italy; 3Scuola Superiore Sant’Anna, Pisa, Italy; 4Cytogenetics and Molecular Genetics Unit, University Hospital of Pisa, Pisa, Italy; 5Section of Neonatal Endocrinology and Dysmorphology, University Hospital of Pisa, Pisa, Italy. Email: #pghirri@med.unipi.it Received January 9th, 2012; revised February 24th, 2012; accepted March 18th, 2012 ABSTRACT Adams-Oliver Syndrome (AOS) is a rare genetic disease characterized by combination of aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD), often accompanied by defects in scalp and skull ossification. Different clinical phenotypes may be related to variable severity both of aplasia cutis and TTLD, and of minor clinical features as cutis marmorata telangiectatica congenita (CMTC), congenital cardiac defect and vascular anomalies. The treatment is multidisciplinary: dermatologic, orthopedic an