Discussion
The extent and severity of trisomy 13, a common aneuploidy, depend on the specific location of the trisomy in chromosome 13, as well as the percentage of abnormal cells. Affected infants usually present with the profound mental retardation, microcephaly, microphthalmia, cleft lip, cleft palate, hypertelorism, malformed ears, abnormalities of the central nervous system, renal malformations, congenital cardiac defects, capillary hemangiomas (most frequently on the center of the forehead), and limb malformation. Males may also be affected by cryptorchidism. In addition, limb malformations, including polydactyly, flexion and possible overlapping of fingers, and prominent heels of the feet, are common in infants with trisomy 13 syndrome. However, Ectrodactyly, a deformity affecting the central rays of the hands and/or feet, and occurs as an isolated entity or as part of a syndrome, is a rare presentation in infants with trisomy 13. Indeed, there have been only a few reported cases.
Our patient also possessed congenital diaphragmatic hernia, another rare finding in patients with trisomy 13. CDH is life- threatening pathology in infants and can be a major cause of death. It can be either an isolated anomaly or associated with other abnormalities, such as major structural malformations, chromosomal abnormalities, and/or single gene disorders. Severe anomalies associated with CDH may influence diagnosis, treatment, and survival. In our patient, an antenatal scan detected left CDH as an anomaly. Although a prenatal genetic diagnosis of trisomy would have aided decision-making and allowed for the creation of a treatment plan, it was not performed. Upon birth, the presence of multiple congenital anomalies combined with CDH suggested a complex chromosomal diagnosis, which was confirmed by postnatal karyotyping as trisomy 13. This result deferred the decision of surgical management as the prognosis for CDH is poor in an abnormal chromosomal microarray case.