De novo inv(2)(p12q34) associated with Klippel-Feil anomaly and hypodontia

Abstract

The current report of a patient with oligodontia and an inversion on chromosome 2 may aid in the identification of novel genes for oligodontia.

A case of Klippel–Feil syndrome with congenital enlarged Eustachian tube

“…The evidence for a recessive form of cervical vertebrae fusion is less convincing [9,10]. Some authors have reported various cytogenetic anomalies: translocation between 18q11.2 and 17q23 [16], and between 5q35 and 8q21.1 [17], pericentric inversion of 2p12-q34 [18], and mutations in PAX1, CDF6 at 8q22.1 [19] in patient with KlippelFeil syndrome, but the significance remains uncertain. The type of inheritance was not disclosed in our patient due to unknown family history.…”

Klippel‐Feil syndrome in an Early Hungarian Period juvenile skeleton from Austria

“…Furthermore, a supernumerary cervical vertebra, a fusion of the arches of the second and third thoracic vertebrae (Th2-Th3; Figure 3a-c), a cleft formation of the vertebral arch of the first sacral vertebra (S1) and a spina bifida occulta are also present. Although dental anomalies in KFS are rarely described in the literature (Papagrigorakis et al, 2003;Barbosa & Maganzini, 2004), we suggest that the hypoplasia of the teeth, the enamel defects and the conspicuous diastemas are consistent with Klippel-Feil syndrome.…”

“…Furthermore, spina bifida, menigocele, deafness or deafmuteness is frequently mentioned (Everberg et al, 1962), as well as os odontoideum (this is a separation of the odontoid process from the body of the axis; Sherk & Dawoud, 1981). Hypodontia (Papagrigorakis et al, 2003;Barbosa & Maganzini, 2004), cleft lip/palate, ocular anomalies, facial asymmetries, pterygium colli, cervical ribs, and gonadal dysplasia are also documented (Palant & Carter, 1972;Barbosa & Maganzini, 2004). Neurological problems can occur due to instability of the cervical spine (Rouvreau et al, 1998), including paralysis, hyperreflexia, pain, muscular atrophy, oculomotor defects, anesthesia and paresthesia (Resnick, 2002: 4536, 4602-6).…”

“…Often, KFS is accompanied by other severe abnormalities, for example, occipito-atlantal fusion, basilar impression, spina bifida occulta, scoliosis, eight cervical vertebrae, synkinesis, Sprengel's deformity, hearing impairment, deafness or deaf-mutism, hypodontia, renal anomalies, meningocele, neck pain, and vascular, heart, central nervous system or skeletal system diseases (Gunderson et al, 1967;Hensinger et al, 1974;Barnes, 1994;Papagrigorakis et al, 2003). The incidence of KFS in general is not quite certain; it seems to vary widely from 0.2/1000 to 7.1/1000.…”

“…The incidence of KFS in general is not quite certain; it seems to vary widely from 0.2/1000 to 7.1/1000. Type II occurs more frequently with a prevalence of 7.3/1000 (Papagrigorakis et al, 2003). The defect is equally common in both sexes (Gunderson et al, 1967;Resnick, 2002).…”