11/154. Dental and oral lesions in two patients with focal dermal hypoplasia (Goltz syndrome). This report is concerned with the manifestations associated with focal dermal hypoplasia (Goltz syndrome) in two patients. Goltz syndrome is a rare polydysplastic syndrome. Systemic findings were similar to those previously reported in the literature and are illustrated. More detailed descriptions of the dental abnormalities are presented. The possibility of root resorption being a previously unreported part of the syndrome is hypothesised. ( info) |
12/154. A new arthrogryposis syndrome with facial and limb anomalies. A new familial syndrome of facial and limb anomalies was shown in a 4-month-old girl. Small mouth and jaw with limited jaw movement were seen in infancy, with growth to relatively normal size and movement in adulthood, but with a persistent, deep, horizontal depression just above the chin. Mild short stature and microcephaly as well as large ears with lack of the anthelix were present in family members. Severe flexion contractures of the hands and feet were present and led to subluxation of fingers and club feet in the most severely affect child. Marked variability among family members was seen, but a dominant inheritance seems likely. ( info) |
13/154. ellis-van creveld syndrome: dental, clinical, genetic and dermatoglyphic findings of a case. Dental, clinical, genetic and dermatoglyphic findings of an additional female case with ellis-van creveld syndrome (EVC) are presented and compared with those of the cases cited in the literature. The dermatoglyphics of the case was remarkable. ( info) |
14/154. Hurler syndrome: a case report. Hurler syndrome is an inherited disorder of mucopolysaceharide metabolism, which is caused by a defect in genetically controlled pathways of lysosomal degradation. It represents the classical prototype of mucopolysaccharide disorder. An interesting case of a three and a half-year old boy with a rare combination of skeletal, neurological, ophthalmologic, and dental findings is presented. It is a rare syndrome with a very low prevalence of 1:100,000 births and as such the clinician should be aware of this syndrome. ( info) |
15/154. New syndrome characterized by sparse hair, prominent nose, small mouth, micrognathia, cleft palate, crumpled upper helices, digit anomaly, and mild developmental delay. A brother and a sister show very similar clinical features, including sparse hair in the first year of life, prominent nose, small mouth, micrognathia, high arched palate or cleft palate, crumpled upper helices, flexion limitation of the distal interphalangeal joint of the fingers, and mild developmental delay. Their clinical appearance suggests a premature aging phenotype, but is not really compatible with the hitherto known syndromes of that group. The mode of inheritance is likely autosomal recessive. ( info) |
16/154. Orofacial findings in the Klippel-Trenaunay syndrome. The Klippel-Trenaunay syndrome is a triad of congenital anomalies characterised by haemangiomas, varicosities, and unilateral bony and soft tissue hypertrophy. hypertrophy usually affects one distal limb, but trunk or face may be affected. Cutaneous haemangiomas (nevus flammeus) of varying extent and irregular contour are often present in the hypertrophic regions. Varicosities may also be part of the vascular lesions of the syndrome. Orofacial manifestations include facial asymmetry, jaw enlargement, and malocclusions as well as premature tooth eruption. Two cases of the Klippel-Trenaunay syndrome are presented here. Both of these show the typical hemifacial hypertrophy and premature eruption of teeth on the affected side. In the first case only the left mandibular region was affected. In contrast, in the second there was hypertrophy of the whole left side of the body including upper and lower jaws. This boy also suffers from congenital ideokinetic retardation, while the first was otherwise normal. Both cases differ from previously reported cases of the Klippel-Trenaunay syndrome in lacking any prominent facial nevus flammeus. In the first case there was also malformation of the crown of the first permanent molar on the affected side that has not been described previously. ( info) |
17/154. focal dermal hypoplasia: management of complex dental features. A 17 year-old female who presented for treatment of grossly carious lower first molar teeth had multiple features of focal dermal hypoplasia (FDH). These included enamel pitting and hypoplasia, anomalies of shape, size and positioning of teeth, as well as soft tissue papillomas and telangiectasis of tongue. A case report and a synopsis of the syndrome (FDH) are presented, the oral aspects of the condition are reviewed and the management of the complex dental anomalies is discussed. ( info) |
18/154. Characteristics and dental treatment of partial trisomy 9. A description is made of the dental characteristics and treatment of a patient with partial trisomy 9. Due to the deep mental retardation and motor deficiency of the patient involved, treatment (extractions, caries restorations and periodontal treatment) is conducted in hospital and under general anesthesia. trisomy 9 has only rarely been described in literature, and the present study provides one of the first descriptions of both the dental characteristics of these patients and the treatment of their oral pathology. ( info) |
19/154. The Tessier number 5 cleft with associated extremity anomalies. OBJECTIVE: Oblique facial clefts are rare congenital deformities. They constitute 0.22% of all facial malformations. In this case report, an oblique facial cleft defined as Tessier number 5 is presented. The number 5 cleft of Tessier is one of the most rare congenital facial clefts; review of the literature revealed 20 patients. This case was also demonstrated with associated limb anomalies, suggesting that the patient may have been affected by the amnion rupture sequence. The teratology of these malformations is discussed, and attention is drawn to the amniotic rupture sequence as a possible cause. ( info) |
20/154. Cowden disease. Cowden disease represents an unusual, but unique syndrome which can be recognized most consistently by the development of characteristic verrucous, keratotic, papular, and nodular lesions about facial orifices, on the oral mucosa, and over the dorsal surfaces of the forearms and hands. The cause of these diverse hyperplastic changes is not known. Recognition of these lesions as signs of more extensive disease should alert the physician to examine the thyroid gland, breasts, female reproductive tract, GI tract, and skeleton for evidence of the associated changes we have enumerated. Because of the tendency for lesions of the thyroid, breast, and intestines to undergo malignant change, these patients require close observation and evaluation. ( info) |