holoprosencefalía alobar

Síndrome de Deleción del Brazo Corto del Cromosoma 18 (18p) por Traslocación Balanceada 6p/18p Materna asociada a Holoprosencefalia Alobar.

We present a case of alobar holoprosencephaly and cebocephaly in a newborn girl associated to a short arm deletion chromosome 18, as a result of a maternal balanced traslocation 6p/18p.

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Palabras clave: holoprosencefalía alobar, Síndrome, Síndrome por delección del brazo corto del cromosoma 18,

Keywords: alobar holoprosencephaly, Short arm deletion chromosome 18, Syndrome,

Ciclopía Con Sinoftalmía En Un Feto De 27 Semanas.

Cyclopia is a rare congenital malformation that is non-compatible with life, it is characterized by the presence of a single eye in a central position secondary to alobar holoporsencephaly. The cyclopia is of heterogeneous etiology and has a prevalence of 1,05 per 100.000 births. We report a case of cyclopia with synophthalmia in a fetus at 27 weeks.