Skeletal and dental abnormalities in patients with sex chromosome aberrations: a systematic case-based review

Abstract

Sex chromosome aneuploidies (SCAs) are common chromosomal disorders characterised by an atypical number of sex chromosomes. Turner syndrome (TS), Klinefelter syndrome (KS), and Jacobs syndrome (JS) are associated with a wide spectrum of skeletal manifestations, including craniofacial and limb anomalies. This systematic review aimed to analyse the incidence of skeletal abnormalities in selected SCAs based on case reports. In this review, 55 articles were included from the MEDLINE/PubMed and Google Scholar databases, according to PRISMA guidelines. High-arched palate, skeletal class II, and cubitus valgus were most frequently demonstrated among TS patients. Patients with KS and JS most often presented micrognathia, hypertelorism, and flat nasal bridge in the craniofacial region. In contrast, radioulnar synostosis, clinodactyly, and pes planus could be observed in the limbs of KS patients. The presence of dysmorphic facial features and limb malformations may indicate SCAs, which are underdiagnosed in the general population due to a variety of phenotypes.

Presentation and Treatment of a Patient With Jacobs Syndrome and Metopic Craniosynostosis

“…Craniofacial phenotypic changes associated with Jacobs syndrome include macrocephaly, hypertelorism, and dental abnormalities, 1,2 with a few cases of microcephaly also being reported 2,3 . Craniosynostosis, although not specifically reported alongside Jacobs syndrome, is present in 1 out of 2000 to 2500 live births, about 75% to 85% of which are nonsyndromic 4,5 .…”

“…Craniofacial phenotypic changes associated with Jacobs syndrome include macrocephaly, hypertelorism, and dental abnormalities, 1,2 with a few cases of microcephaly also being reported. 2,3 Craniosynostosis, although not specifically reported alongside Jacobs syndrome, is present in 1 out of 2000 to 2500 live births, about 75% to 85% of which are nonsyndromic. 4,5 Nonsyndromic craniosynostoses are classified based on which suture is prematurely fused: scaphocephaly or dolichocephaly (sagittal suture), anterior plagiocephaly (single coronal suture), posterior plagiocephaly (single lambdoid suture), trigonocephaly (metopic suture), brachycephaly (bi-coronal sutures), and oxycephaly or turricephaly (all or most sutures).…”

“…And this increases even more if the emphasis is placed on the presence of titanium screws and plates positioned at the end of the osteosynthesis. 2,3 Starting from January 2019, the Maxillofacial Surgery Department of Ospedali Riuniti of Ancona has opened attendance for dental hygienists. Therefore, this opportunity was used to establish a standardized protocol of targeted and professional oral hygiene for patients in the postoperative hospitalization period.…”