1/38. Ophthalmic findings in GAPO syndrome.BACKGROUND: The main manifestations of GAPO syndrome are growth retardation (G), alopecia (A), pseudoanodontia (P), and optic atrophy (O). CASES: This syndrome has been described in 21 patients from 16 different families. Four cases are from turkey and have been presented by Sayli and Gul. The purpose of our study is to document the cases from turkey and discuss the ophthalmological and neuro-ophthalmolgical findings of these and other reported GAPO cases. OBSERVATIONS: All patients in the literature and our 4 cases have severe growth retardation with delayed bone age in infancy, characteristic facial appearance (high and bossed forehead, midface hypoplasia), alopecia or severe hypotrichosis, and pseudoanodontia. optic atrophy was present in 1 of our cases and in 5 previous cases. glaucoma was present in 5 cases, including 2 of ours. Buphthalmia and keratopathy secondary to glaucoma were also observed. White eyelashes, seen only in our cases, may be a sign of "early senility." CONCLUSIONS: optic atrophy is not a constant finding in GAPO syndrome. glaucoma may accompany the ocular findings. This syndrome has been attributed to either ectodermal dysplasia or the accumulation of extracellular connective tissue matrix, due to an enzyme deficiency involved in its metabolism. Current studies show that an elastin defect and secondary changes in collagen may be important in the pathogenesis of the disease.- - - - - - - - - - ranking = 1keywords = hypoplasia (Clic here for more details about this article) |
2/38. Rieger's syndrome: (oligodontia and primary mesodermal dysgenesis of the iris) clinical features and report of an isolated case.An 11-year-old female manifested bilateral prominent Schwalbe's line, iridal adhesions, displaced and irregular pupils. She had no evidence of juvenile glaucoma. The major nonocular finding in this patient was the congenital absence of her primary and permanent maxillary central and lateral incisors. Although missing or malformed teeth may occur in other conditions such as Down's syndrome, focal dermal hypoplasia syndrome, anhidrotic ectodermal dysplasia, chondroectodermal dysplasia, and incontinentia pigmenti, the clinician should include Rieger's syndrome in his differential diagnosis in patients with oligodontia in combination with malformation of the anterior chamber of the eye. Rieger's syndrome is a rare condition characterized by ocular and dental abnormalities, namely mesoectodermal dysgenesis of the iris and cornea of the eyes and hypodontia of the dentition. This report presents a sporadic case of Rieger's syndrome in an 11-year-old female and discusses the pertinent clinical features of this condition.- - - - - - - - - - ranking = 120.40012043531keywords = dermal hypoplasia, focal dermal hypoplasia, hypoplasia, focal (Clic here for more details about this article) |
3/38. GAPO syndrome: a new case of this rare syndrome and a review of the relative importance of different phenotypic features in diagnosis.The case of GAPO syndrome reported here is the 24th recorded case, 23 cases having been published previously. The 29-year-old male under discussion presents all the typical features of the syndrome, having short stature, dysmorphic craniofacial features, total alopecia and pseudoanodontia. Orally, the erupted primary dentition was extremely worn and on radiographic examination, the second mandibular molars were found to be unerupted, together with the entire permanent dentition. cephalometry revealed the absence of facial pneumatisation, a deficient cranial base with diminished upper face height and maxillary and mandibular hypoplasia with a prognathic skeletal pattern. Histological examination of an extracted primary incisor and its surrounding root bone revealed extensive ankylosis. This paper describes in detail the clinical findings and reviews, and discusses previously published cases in relation to the present one. As with prior cases, parental consanguinity was present in the pedigree.- - - - - - - - - - ranking = 1keywords = hypoplasia (Clic here for more details about this article) |
4/38. Familial choanal atresia with maxillary hypoplasia, prognathism, and hypodontia.We report on two sibs and a cousin with bilateral choanal atresia. At 2 months, one sib died of complications following surgical correction of her defects. We evaluated her brother and cousin at age 7 and 9 years, respectively. Both had a tall forehead, maxillary hypoplasia, prognathism, and absence of certain deciduous and permanent teeth. Psychomotor development was appropriate for age. Roentgenocephalometric analyses of several relatives showed that one grandfather of these children and two of the five uncles and aunts also had maxillary hypoplasia and/or prognathism. To our knowledge, this condition has not been described previously and may represent a newly recognized autosomal dominant condition with incomplete penetrance and variable expressivity caused by a defect of neural crest development.- - - - - - - - - - ranking = 6keywords = hypoplasia (Clic here for more details about this article) |
5/38. Dental development after successful treatment of infantile osteopetrosis with bone marrow transplantation.A 3-week-old boy was diagnosed with congenital osteopetrosis. He underwent a bone marrow transplant at 6 weeks of age. At 3 years of age the primary teeth had all erupted, but the canines and the first molars totally lacked root development. The teeth were smaller in size and had evidence of both enamel hypomineralization and hypoplasia. In the permanent dentition, multiple missing teeth were found. The incisors were conical and the mandibular laterals were extremely small. All permanent teeth had normal eruption. This case shows that dental development and eruption of teeth can be reconstituted in a child with congenital osteopetrosis. bone marrow transplantation induces normalization of osteoclast function, which is a prerequisite for normal dental development and eruption of teeth.- - - - - - - - - - ranking = 1keywords = hypoplasia (Clic here for more details about this article) |
6/38. Seckel syndrome: report of a case.An interesting case of a seven years old boy with a combination of clinical, genetic, radiological, pathologic and dental findings is presented in view of Seckel syndrome literature. General appearance of the patient was characterized by small forehead, posteriorly slanted ears, slightly beaked nose, midfacial hypoplasia very stunted stature with microcephaly. He had borderline mental retardation with normal motor development. Class II dentoskeletal pattern with mild overjet and open bite, congenitally missing permanent teeth, microdontia, enamel hypoplasia, taurodontism and dentinal dysplasia was observed according to the clinical and radiographic examination. In conclusion, Seckel syndrome is not encountered routinely in dental clinics, this case illustrates the importance of dental care in such a rare condition.- - - - - - - - - - ranking = 2keywords = hypoplasia (Clic here for more details about this article) |
7/38. Developmental absence of the premolar teeth: dental management.A boy aged 11 years presented with dental pain, several carious teeth and a localized area of acute necrotizing ulcerative gingivitis (ANUG). Developmental absence of the premolar teeth was notable and additional anomalies included mid-facial hypoplasia, mandibular prognathism, transposed teeth and delayed exfoliation of the deciduous teeth. These abnormalities have significant oral, dental, orthodontic and orthognathic implications.- - - - - - - - - - ranking = 1keywords = hypoplasia (Clic here for more details about this article) |
8/38. amelogenesis imperfecta: diagnosis and resolution of a case with hypoplasia and hypocalcification of enamel, dental agenesis, and skeletal open bite.A case of amelogenesis imperfecta with hypoplasia, hypocalcification of the enamel, congenital absence of teeth 12 and 22, delayed eruption of tooth 23, edge-to-edge incisal relationship, open bite, and bilateral posterior cross bite at the level of the first and second premolars is presented. Lateral skull teleradiography indicated a Class III skeletal pattern of maxillary origin associated with a dolichofacial pattern with multiple indicators of facial hyperdivergence. The patient presented a major esthetic abnormality of the face and required orthodontic treatment prior to a prosthetic solution with full-coverage metal-ceramic crowns in both the maxilla and the mandible. The diagnosis of cases such as this one and the therapeutic implications from an orthodontic and prosthetic standpoint are reported.- - - - - - - - - - ranking = 5keywords = hypoplasia (Clic here for more details about this article) |
9/38. Rigid external distraction osteogenesis for a patient with maxillary hypoplasia and oligodontia.OBJECTIVE: In this report, the orthodontic treatment combined with rigid external distraction osteogenesis in a 5.5-year-old girl with midfacial hypoplasia and oligodontia is described. PATIENT: The child presented with a reduced maxilla, protruding lower lip, skeletal Class III jaw relationship with a low mandibular plane angle, a short and flattened nose, anterior crossbite, and aplasia of 16 permanent teeth. The patient was treated with rigid external maxillary distraction osteogenesis, maxillary protraction headgear, and Class III elastics. Following treatment, the maxilla was displaced in a forward direction with new bone formation at the tuberosities and the mandible rotated backward in relation to the anterior cranial base. The anterior crossbite was corrected, and the skeletal jaw relationship changed from a Class III to a Class I skeletal pattern. The soft tissue facial profile showed that the nasal projection had been increased, the nasolabial angle increased, and the lower lip protrusion was reduced. Postoperative treatment results were acceptable. CONCLUSION: This report documents that early maxillary advancement with rigid external osteogenesis offers a promising treatment alternative for a very young patient with maxillary hypoplasia and oligodontia.- - - - - - - - - - ranking = 6keywords = hypoplasia (Clic here for more details about this article) |
10/38. focal dermal hypoplasia -- oral and dental findings.This report describes the case of an 8-year-old girl with focal dermal hypoplasia. As well as deformities affecting her hands and feet she had marked facial asymmetry, one diminutive eye and coloboma affecting the other. Intraorally, the patient had papillomas at the base of the tongue and tonsils. Her teeth showed irregular spacing, hypodontia, enamel hypoplasia, anomalous tooth form and delayed development. Radiographically, several teeth showed abnormal form. The patient's previous surgical experiences had adversely affected her behaviour and treatment has been limited to patient motivation and oral hygiene instructions, acclimatization, and simple restorative care.- - - - - - - - - - ranking = 442.84006672409keywords = dermal hypoplasia, focal dermal hypoplasia, hypoplasia, focal (Clic here for more details about this article) |
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