2011, Number 2
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Rev Cub Gen 2011; 5 (2)
Holt Oram syndrome. Presentation of two cases in the Pichincha province. Republic of Ecuador
Iglesias RMB, Nuñez MPS, Montalbán SZL, Ramirez CM, Frontela RVC
Language: Spanish
References: 10
Page: 123-126
PDF size: 473.16 Kb.
ABSTRACT
Holt and Oram described in 1960 a syndrome characterized
by the association of congenital cardiopathy and
malformations of the upper limbs, especially hypoplastic
or absent thumbs. The aim of this article is to present the
clinical features of two cases in the same family with
this syndrome, which were diagnosed in the context of
the “Manuela Espejo” Solidary Mission in the Pichincha
province, Republic of Ecuador. The autosomal dominant
inheritance pattern and variable expressivity of the entity
were confirmed. It was demonstrated that this entity can
originate a physical disability due to limb defects.
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