Oral findings in Carpenter Syndrome

Abstract

Acrocephalopolysyndactyly Type II (Carpenter Syndrome) is determined by autosomal recessive inheritance. Only some 40 cases have been described. Variable clinical signs have been described including prolonged retention of primary teeth and hypodontia. This paper describes the oral and dental findings in a family containing two affected brothers. The family pedigree is informative, as the mother has had children by three partners. The two affected individuals are full brothers. The first affected brother has delayed dental development, severe hypodontia and small tooth crown size. Mesio-distal and bucco-lingual dimensions were measured on the study models and compared with population data. The younger brother also has delayed dental development but only mild hypodontia. Their half sister has severe hypodontia but no signs of Carpenter Syndrome. This family study demonstrates two affected individuals with typical clinical features and a pedigree compatible with autosomal recessive inheritance. Small tooth crown size has been shown by standardized measurement and evidence advanced that hypodontia is not part of the syndrome but a coincidental finding which segregates independently. We have also shown that the marked delay in emergence of teeth is associated more with problems of tooth eruption, possibly related to the bony abnormalities, than to a generalized delay in dental development.

The Association of Carpenter Syndrome and Situs Inversus Totalis: First Case Report

“…[1][2][3][4][5][6][7][8] In our pa ti ent, the re we re no car di ac ab nor ma li ti es ex cept for dextro car di a de tec ted with ec ho car di og raphy. He had bi la te ral cryptorc hi dism.…”

“…[1][2][3][4][5] Besides common clinical manifestations, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty and hearing loss may be seen. [1][2][3][4][5][6][7][8][9][10][11][12] Variable rare abnormalities may also accompany the major clinical findings. 1 However, to the best of our knowledge, situs inversus totalis has not been demonstrated previously in Carpenter syndrome.…”

Perspectives in Pediatric Pathology, Chapter 18. Hypogonadotropic Hypogonadisms. Pediatric and Pubertal Presentations

“…Patients have craniosynostosis, a peculiar facies, delayed retention of primary teeth or hypodontia, finger branchysyndactyly, preaxial polydactyly, syndactyly, congenital heart disease and obesity. In addition, there is mental delay, umbilical hernia, cryptorchidism, and hypogonadism [257,258]. Mutations in the gene RAB23 are the underlying defects.…”

Clinical Features of Syndromic Craniosynostosis

“…There is often midface hypoplasia, low-set ears and downward sloping palpebral fissures. Delayed eruption of the teeth is seen in Carpenter syndrome and there is some debate whether hypodontia, which has been recorded in several cases, is also associated with the syndrome [46].…”