Pseudotrisomy 13 syndrome: a case with left ventricular hypoplasia and duodenal stenosis

Abstract

We report a case of a female child born at 32 weeks of gestation. Birth weight was 1200 g (<3rd centile), length 40 cm (10th-50th centile) and head circumference 23.5 cm (<3rd centile). Clinical examination revealed microcephaly, hypotelorism, microphthalmia, a flat rudimentary nose with a single nasal cavity, high palate, thick dysplastic low-set ears, a short neck, postaxial polydactyly of the upper limbs, and single palmar creases. Investigations showed alobar holoprosencephaly, absence of the third ventricle and midline structures of the brain, microphthalmia, hypotelorism, left ventricular hypoplasia, a large atrial septal defect, and duodenal stenosis. The karyotype was 46,XX. A hypoplastic left ventricle and duodenal stenosis have not been previously reported in pseudotrisomy 13 and this case might aid in the further delineation of this syndrome.

Síndrome de Patau

“…Patau Syndrome en nuestro país, pero las muestras pueden ser enviadas a laboratorios del extranjero); 3) pseudotrisomía 13 (MIM 264480), caracterizada por hallazgos similares a Trisomía 13, pero con cromosomas normales (4,5,6); 4) de sólo encontrarse holoprosencefalia no sindrómica, es decir en ausencia de otras anomalías congénitas, la holoprosencefalia aislada puede ser causada por mutaciones dominantes en 14 genes conocidos hasta el momento (8).…”

Holoprosencephaly–polydactyly/pseudotrisomy 13

“…Among the cases in Table 1, 28% describe parental consanguinity, leading to the suspicion of autosomal recessive inheritance in some cases (Ramaekers et al ., 1989; Bachman et al ., 1990; Brown et al ., 1993; Ahmet et al ., 2006; Marquis-Nicholson et al ., 2011). Eighteen percent of cases were found to have an affected sibling with HPS.…”