Cases reported "Mouth Abnormalities"

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1/8. Sonographic features of fetal trisomy 18 at 13 and 14 weeks: four case reports.

    Fetal trisomy 18 is the second most common multiple malformation syndrome. We present four cases of trisomy 18 with multiple sonographic abnormalities at 13 and 14 weeks of gestation. These cases demonstrated that fetal hand deformities can be a tell-tale sign of trisomy 18 with or without increased nuchal translucency at this gestation.
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ranking = 1
keywords = trisomy
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2/8. 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.
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ranking = 5.014474753592
keywords = partial trisomy, trisomy
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3/8. Familial partial trisomy of the long arm of chromosome 10 (q24-26).

    Two fourth cousins with a strikingly similar pattern of malformation and who have an unbalanced translocation (46, XY, -17, t (17p; 10q) are described. From an analysis of the phenotypes of these patients and others reported with 10q trisomy, we propose that the trisomy 10q 24-26 syndrome includes: growth and mental retardation, a characteristic facies (microcephaly, flat face with spacious forehead, small nose, depressed nasal bridge, arched wide-spaced eyebrows, blepharophimosis, microphthalmia, low-set ears, bow-shaped mouth with prominent upper lip, micrognathia), palate anomalies (high-arched cleft or agenesis), congenital heart disease, and anomalies of the hands and feet. Anomalies common to the cousins, but not described in other patients with trisomy 10q, are believed to be expressions of a partial monosomy of 17p.
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ranking = 4.440151231445
keywords = partial trisomy, trisomy
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4/8. Partial trisomy 10q occurring in a family with a reciprocal translocation t(10;18)(q25;q23).

    Partial trisomy 10q was observed in an eighteen year old girl with severe mental and physical retardation, microcephaly, a high forehead, microphthalmia, antimongoloid slants, low set ears and severely malformed extremities. A balanced translocation t(10q-;18q ), present in several family members, was identified by fluorescence and thermic denaturation techniques; the break points were 10q25 and 18q23. A comparison made with seven similar cases suggests a common, phenotypical appearance which may be of diagnostic value.
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ranking = 0.71428571428571
keywords = trisomy
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5/8. Dup(1q)(q42-->qter) syndrome: case report and review of literature.

    We report on a patient with primordial growth retardation, mental retardation, and minor anomalies (triangular face, open sagittal suture, frontal bossing, telecanthus, upturned nose, micrognathia, and small mouth with downturned corners). The diagnosis of Russell-silver syndrome (RSS) had been considered but was abandoned when cytogenetic evaluation showed a partial trisomy 1q or duplication 1q (46,XY,15, der(15)t(1;15)(q42;qter). Data from another 5 reports of dup(1)(q42-->qter) do not allow delineation of a typical syndrome. However, individuals with dup(1q), del(15q), and Russell-silver syndrome share common manifestations (i.e., low birth weight, growth retardation, triangular face, low set/abnormal ears, micrognathia, renal anomalies.
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ranking = 1.0028949507184
keywords = partial trisomy, trisomy
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6/8. The oro-facial manifestations of trisomy 8 mosaicism: a case report.

    trisomy 8 mosaicism is a relatively common autosomal chromosomal disorder characterized by features such as mental retardation, characteristic facies, skeletal abnormalities and congenital heart disease. The case of a 4-year-old boy is described with particular reference to the oro-facial manifestations, which included cleft palate, pronounced anterior open bite, complete reserved unilateral buccal cross-bite, slightly increased width of alveolar processes, and gingival enlargement.
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ranking = 0.57142857142857
keywords = trisomy
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7/8. A female patient with partial duplication 22 (q13-->qter).

    We report on a 9-month-old female patient with pre- and postnatal growth retardation, hypertelorism, bilateral cleft lip and palate, and a peripheral pulmonary stenosis. High resolution banding and fluorescent in situ hybridization (FISH) revealed a de novo partial trisomy 22q13-qter. We compare the clinical findings to published patients with this rare chromosomal aberration and discuss the chromosomal differential diagnosis. Facial features at first sight suggestive of wolf-hirschhorn syndrome may be an additional, previously undescribed clinical sign in some patients with partial trisomy 22q.
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ranking = 2.0057899014368
keywords = partial trisomy, trisomy
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8/8. The syndrome of partial trisomy 14q.

    The case of a 4-month-old male with de novo partial trisomy for chromosome 14 involving the p13 leads to q24 portion is reported. He presented with growth and psychomotor retardation, peculiar facies due to nose-mouth anomalies, monolateral microphtalmia, high arched palate, and anomalies of hands and feet. These symptoms are found also in the other 8 cases of partial trisomy 14 reported in the literature. This confirms a characteristic chromosomal syndrome although the breaking points on the extra chromosome 14 are not the same in the 9 cases. The clinical picture of our case calls for careful investigations of the chronology of bone age and of the immunologic situation in further cases of total and partial trisomy 14.
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ranking = 7.0202646550288
keywords = partial trisomy, trisomy
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