Bilateral Palmar Single Transverse Crease in an Infant Girl with Ring Chromosome ۱۳ and Multiple Facial Anomalies: A Case Report

Background: Ring chromosome ۱۳ is a rare cytogenetic disorder resulting from breakage and reunion of the distal ends of the chromosomal arms. The incidence of this disorder is about ۱ in ۵۸,۰۰۰ live births. This syndrome usually presents with particular clinical features, including developmental delay, microcephaly, genital malformation in males, and dysmorphism, such as hypertelorism, broad nasal bridge, thin lips, up-slanting palpebral fissure, and ear anomalies. Case Report: We report a ۲-month-old girl who was referred to a clinical geneticist because of growth retardation and distinctive facial features. Her parents were consanguineous (second-cousins). The patient had a history of IUGR and was the product of a normal delivery at ۳۹ weeks of gestation. At presentation, hypotonia, microcephaly, micrognathia, low-set ears, bilateral palmar single transverse creases (simian creases), broad nasal bridge, and thin lips were observed. Conclusion: The karyotype revealed the presence of mosaic ring chromosome ۱۳. This is the first report of a case of ring chromosome ۱۳ with bilateral palmar single transverse creases.

کلیدواژه ها:

Cytogenetic ، Microcephaly ، palmar single transverse crease ، Ring chromosome ۱۳ ، Simian crease