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Artículo en Inglés | IMSEAR | ID: sea-154624

RESUMEN

Endogenous erythroid colony (EEC) syndrome comprise of three cardinal features, i.e. ectrodactyly, ectodermal dysplasia and cleft lip. EEC itself has three different forms. Ectrodactyly (absence of one or more digits) can be present with clefting in the proximal portion of hand or foot known as split hand foot malformation (SHFM) or lobster claw deformity. SHFM can be of four types depending upon the different responsible chromosomal loci. SHFM-4 can be present as pure limb malformation (non-syndromic form). In this article, describes a rare case report of lobster claw deformity patient.


Asunto(s)
Anciano , Ensayo de Unidades Formadoras de Colonias , Femenino , Humanos , Deformidades Congénitas de las Extremidades/epidemiología , Nephropidae/etiología
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