Case Report of a 22-Week Fetus with 47,XXX Karyotype and Multiple Lower Mesodermal Defects

A 22-week stillborn fetus with 47,XXX karyotype had lower mesodermal defects consisting of irregular fusion of the sacral vertebrae, anal agenesis, multicystic dysplasia of a horseshoe kidney, a single umbilical artery, dysplastic ovaries, and uterine hypoplasia. This case provides additional evidence for an association between trisomy X and genitourinary defects including lower mesodermal defects sequence.

Is There an Association Between Hemangioma and Syndromes With Dysmorphic Features?

Most vascular birthmarks can be categorized, based on clinical and cellular criteria, as either (1) a hemangioma, or (2) a malformation, or (3) a macular stain. Macular stains are commonly seen in newborns, and they consist of faint vascular stains of the glabella, eyelids, and nuchal region called "nevus flammeus," "stork bite," "salmon patch," etc. Unfortunately, the term "hemangioma" is frequently applied to all three types of cutaneous vascular lesions. Usually, these disparate vascular anomalies are listed in association with various malformative syndromes and are generically labeled "hemangioma." This study attempts to define accurately the specific vascular anomalies seen in children born with syndromes with dysmorphic features. This review of five standard textbooks of genetics showed that the majority of vascular anomalies reported in syndromic newborns are not hemangiomas. Rather, they are macular stains, and the vast majority of these fade with time. Congenital telangiectasias and other vascular malformations (capillary, lymphatic, venous, arterial, and combinations thereof) also occur in association with dysmorphic syndromes. contrast, hemangioma, the most common neonatal tumor, is seen only incidentally with rare dysmorphic conditions. Specifically, hemangioma was found to occur only in association with midline (sternal, abdominal) clefting, right-sided aortic arch coarctation, and with a constellation of sacral and genitourinary defects.