Dental findings in GAPO syndrome: case report

Abstract

This article reports the case of a young female adult with GAPO syndrome who presented as a peculiar dental finding unerupted primary and permanent dentitions, which resembled total anodontia on clinical examination. A cephalometric analysis was performed to investigate the alterations in facial bone development. This is the 9th GAPO syndrome case reported in a Brazilian patient.

GAPO syndrome with the novel features of pulmonary hypertension, ankyloglossia, and prognathism

“…Our patient had pulmonary hypertension and died at 18 months of age due to related complications. Cardiovascular abnormalities have not been previously mentioned, except for one patient with mitral valve prolapse and one with cardiomyopathy [Russell et al, 1992; da Silveira et al, 2006]. There are some reports of reduced life span and death occurring during the third or fourth decade of life, to the best of our knowledge the presented case is the first with pulmonary hypertension and the youngest recorded death in GAPO syndrome (Table I).…”

“…The main facial characteristics are a premature aged appearance, frontal bossing, midfacial hypoplasia, and the absence of eyebrows, eyelashes, and hair. Although this distinctive phenotype can be diagnosed in most patients by the age of 6 months, only about 30 cases have been reported since it was first described [Tipton and Gorlin, 1984; Manouvrier‐Hanu et al, 1987; Wajntal et al, 1990; Russell et al, 1992; Sayli and Gul, 1993; Phadke et al, 1994; Meguid et al, 1997; Goucha et al, 2000; da Silveira et al, 2006].…”

GAPO syndrome: Three new Brazilian cases, additional osseous manifestations, and review of the literature

“…In Brazil, nine patients have been described so far [Gagliardi et al, 1984;Da Silva, 1984;Wajntal et al, 1990;Rim and Marques-de-Faria, 2005;Silveira et al, 2006] including the three patients described in the study. Since the number of affected patients is small, and there are few studies in the literature, further studies and a multidisciplinary approach are necessary to determine the etiology of the disorder and assist in genetic counseling.…”

“…Until now, there have been approximately 30 cases reported worldwide [Andersen and Pindborg, 1947;Shapira, 1982;Da Silva, 1984;Gagliardi et al, 1984;Tipton and Gorlin, 1984;Manouvrier-Hanu et al, 1987;Wajntal et al, 1990;Gül, 1993, 1996;Phadke et al, 1994;Moriya et al, 1995;Sandgren, 1995;Baxova et al, 1997;Meguid et al, 1997;Mullaney et al, 1997;Bacon et al, 1999;Goucha et al, 2000;Orbak et al, 2002;Rim and Marques-deFaria, 2005;Silveira et al, 2006]. In Brazil, nine patients have been described so far [Gagliardi et al, 1984;Da Silva, 1984;Wajntal et al, 1990;Rim and Marques-de-Faria, 2005;Silveira et al, 2006] including the three patients described in the study.…”

Eruption abnormalities in permanent molars: differential diagnosis and radiographic exploration

“…Eruption abnormalities may be isolated or associated with other disorders, explored by the medical questionnaire and history-taking, looking for endocrine disorders (hypopituitarism, hypothyroidism, parathyroid pathology), phosphocalcic metabolism disorder (rickets, Albright's disease), and signs of genetic abnormalities that may be associated with generalized dental retardation: -cleidocranial dysplasia (sequela of cleidocranial dysostosis or Marie-Sainton syndrome, now classified as OMIM #119600); -mucopolysaccharidosis; -Gorlin-Goltz syndrome (OMIM #109400); -GAPO syndrome (growth retardation, alopecia, pseudo-anodontia a n d o p t i c a t r o p h y ) 9 ( O M I M #230740); -osteopetrosis or osteosclerosis (also known as marble bone disease: OMIM #259700 #259710 #259730 for recessive forms, and #166600 #607634 for dominant forms). Familial history of posterior tooth eruption disorder should be investigated (siblings 6,7,12 , parents 6,7,19,[29][30][31] ), as PFE is often associated with non-syndromic genetic abnormalities (familial in 10-40% of cases 4…”