Introduction
Trisomy 13 or Patau syndrome, (Patau et al., 1960), is characterized by
a wide range of anomalies including complex heart and brain
malformations. Resuscitation at birth is abandoned owing to the poor
prognosis and associated lethal anomalies, the median survival of
trisomy 13 patients is only less than few months.
The association between trisomy 13 and ectrodactyly, a
split-hand/split-foot malformation caused by an abnormal median cleft of
the hand or foot giving a lobster claw‑like appearance to the hand
and/or foot, was first described by Urioste et al. (1994). To the best
of our knowledge, only three cases of ectrodactyly in patients with
trisomy 13 have been reported to date, including the one previously
published by our group (Urioste et al., 1994; Feben et al., 2015; Al
Rawi et al., 2020). Here, we report another case of ectrodactyly in a
patient with trisomy 13. The patient also presented with congenital
diaphragmatic hernia (CDH), a serious malformation which occurs due to
the developmental defect in the diaphragm allowing the abdominal viscera
to herniate into the chest, resulting in lung hypoplasia and pulmonary
hypertension, thus associated with significant risk of morbidity and
mortality. CDH, as with ectrodactyly, has been infrequently described in
patients with trisomy 13.