Síndrome Cri du Chat - caso clínico
2008; Hospital Center of Porto; Linguagem: Inglês
ISSN
0872-0754
AutoresBernarda Sampaio, Ana Guedes, Augusta Areias, Cármen Carvalho,
Tópico(s)Congenital heart defects research
ResumoCri du Chat Syndrome (CDCS) is a rare genetic disease, with clear phenotypic manifestations. We report a male newborn, born at 38 weeks by cesarian due to intrauterine growth restriction. He presented two left preauricular tags, ears malformations, anteverted nostrils, microretrognathia, left single transverse palmar crease, proximal placed halluces, low-set fi fth toe, systolic murmur and a typical cry. A tetralogy of Fallot was diagnosed. Cytogenetic analysis showed 46, XY, del(5) (p14) (CDCS). If early recognized, a better therapeutic intervention can be established. Nascer e Crescer 2008; 17(1): 37-39
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