The craniofacial complex in 47, XXX females

Abstract

A study of the craniofacial complex in four 47, XXX Finnish females, or females with an extra X chromosome, was carried out using cephalometric analysis comprising linear and angular measurements. The lengths of the anterior and posterior cranial bases, the calvarium, mandibular ramus and posterior and upper anterior face heights were found to be significantly shorter than in female controls, while the angles between the foraminal and clival planes, the mandibular plane and cranial base, the maxillary and occlusal planes, the maxillary and mandibular planes and the foraminal and mandibular planes, and also the gonial angle, were significantly enlarged. The present findings of reduced linear measurements, together with the results of studies on the craniofacial complex of 47, XXY and 47, XYY males, suggest dimensional variation between these groups from the promoting effect of an extra Y chromosome and the retarding effect of an extra X chromosome on craniofacial growth.

Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis

“…In our sample, congenital anomalies were not significantly more frequent than in the general paediatric population. We did not observe an increased prevalence of genitourinary malformations or facial malformations as previously reported [9,11,21].…”

Structural and numerical changes of chromosome X in patients with esophageal atresia

“…4,28,29 Genitourinary malformations are well described in triple X patients. They often are associated with lower gastrointestinal tract anomalies; perhaps, a cloacal septation problem gives rise to the higher incidence of these types of malformations.…”

Prenatal diagnosis and prognosis of triple X syndrome: 47, XXX

“…At birth, 47, triple X girls are usually normally developed, but their average birth weight is slightly lower and their head circumference is smaller than that of girls with normal chromosomes. Cephalometric analysis of 47, triple X females suggests that an extra X chromosome causes craniofacial growth reduction [13]. In the first year of life, 47, triple X infants were not generally distinguishable from chromosomally normal children, even though there was a slight delay in neuromotor development.…”