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Oral Findings in Trisomy 8 Mosaicism

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Oral Findings in Trisomy 8 Mosaicism PEDIATRICDENTISTRY/Copyright (~ 1980 by The AmericanAcademy of Pedodontics/Vol. 2, No, 1 CLINICAL Oral findings in Trisomy8 mosaicism AlanB. Pickett, D.M.D., M.S. FrancisJ. Krakowiak,D.D.S. Abstract condition expressed as 47, XYor XX, with a chromo- someidentifier, i.e. 47, XY, 8+. Trisomy 8 is a genetic dysfunction with wide-ranging, clinical de~ects including prominentdysmorphism a~ect- With the advent of Quinacrine fluorescent and ing the head and neck. Over seventy cases have been Giemsa staining techniques, it has become possible to "reported in the literature since 1961; however,this paperis dearly identify chromosomes not only by morphology the [irst completereport of oral and dental findings in but by the specificity of light and dark band pat- an eleven-month-old patient a~licted with the mosaic terns. 1 The use of Q and G banding techniques in in- form of Trisomy 8. stances of C group trisomy anomalies, has shown most cases to involve chromosomes8, 9, and 10. ~ Tri- somy 9 has been reported as the most disabling con- Introduction dition of the group with microcephaly and severe psychomotor retardation being prominent. 3,4,5 The di- Numerical abnormalities in chromosomal condi- verse clinical presentations of the C group trisomies tions are chiefly a result of nondisjunction, i.e. the are explained by the presence of six chromosomes in failure of paired or mated chromosomes to disjoin the group, the mosaic condition generally being less during the anaphase period of mitosis or meiosis. Dis- serious than full trisomy, and the clinical picture vary- junctional errors most commonly change the normal ing with the chromosome involved and the propor- state of diploidy to a condition of monosomyor tri- tion of abnormal cells in various tissues. Homogenous somy. If nondisjunction occurs during the develop- trisomy C group expression was formerly thought to ment of the unfertilized ovum, then following fertili- be incompatible with lfe until the viable delivery of zation, ever), cell of the embryo will be defective. If an infant with full trisomy involving chromosome10, nondisjunction occurs early in the development of 11, or 12.s Minoet al. reported five cases of full Tri- the fertilized ovum, two or more cell lines may de- somy 8, but cautioned that mosaicism cannot be ruled velop, each having different chromosomal makeup. out7 when only one tissue is studied. This condition of differing karyotypes or chromosomal Over 70 cases of Trisomy 8 have been reported since patterns in a single individual is termed mixoploidy or the first report in 1961.8 Reviews with tabulations of mosaicism. The proportion of normal and abnormal signs and symptoms are presented by Kakati et9 al., cells vary from tissue to tissue. The mosaic individual Fineman et al., 1° and Riccardi. ]1 Prominent findings may defy detection because repeated tissue samples commonto most patients are moderate mental retar- from different sites may appear normal. It is also dation, osseous abnormalities, restricted articular func- pertinent to a discussion of a genetic anomaly to in- tion, malformed, low-set ears, broad, upturned nose, clude a brief review of chromosomal nomenclature. long, slender trunk, cardiac and urogenital deformi- The normal male karyotype consists of 22 pairs of ties, absent patellae, micrognathia, and palatal de- numbered autosomes arranged in groups A to G, plus formities. Although general physical findings in Tri- an X and a Y sex chromosome. The female karyotype somy 8 have been extensively documented, the inci- has two X chromosomes. A normal karyotype would dence and description of oral anomalies has not been thus be expressed as 46, XYor XX, and a trisomic remarkable perhaps due to the largely medical orien- tation of the observers. Palatal defects are the most Accepted: November16, 1979 commonoral findings, described usually as high arch- TRISOMY8 48 Pickett andKrakowiak ing often concurrent with partial clefting. Micro or IANC retrognathia with prominent everted lips is also com- PATHOLOGY - GF.Nr.TICS monly reported. Unusual oral findings reported are CHROMOSOME STUDIES* 12 13 14 15 broad lingual frenum, - short teeth, "fishmouth", ACCI C8-72 SPECIMEN Bl°°d E9 Mar 78 16 Ft. Banning premature eruption of teeth, and ridging of the al- PHOTO! PHYSICIAN 13 veolar gingiva. CYTOGENET1C NOMENCLATURE Report of a Case An 8.5 pound white male was born at 36 weeks gestation to a 22-year-old nullipara mother. The preg- J* m nancy was unremarkable except for mild eclampsia at GROUP "A" IT •£ *.J week 32. Significant findings at delivery were a gen- eralized hypotonia with depressed sucking reflex, low- set ears, large flat nose, webbed neck, pectus excava- GROUP "B" Hit tum, widely spaced nipples, mongoloid obliquity of the eyes, and bilateral genital hydrocoele. The ex- tremities were cyanotic. The hands and feet appeared * II m •<: ii *-; short and wide with prominent skin fold patterns, overriding fifth toes and syndactly of third and fourth toes. Radiographic findings showed multiple rib and GROUP "0" I vertebral anomalies, missing patellae, and an increase in heart size and pulmonary vasculature. Subsequent diagnosis was made of a large ventricular septal de- SPOUP "F" fect and uretero-pelvic junction obstruction with mild hydroephrosis. Oral findings noted by the attending physician were a high arched palate and tongue fas- GROUP "5" i , ciculations. •SEE REVERSE SIDE FOR NOTES The ventricular septal defect later closed sponta- neous!}' and surgical correction of the inguinal hernia and urinary obstruction was made at five months. De- Figure 1. Chromosome grouping of the subject show- velopmental assessment at seven months showed de- ing a Trisomy 8 mosaicism pattern. layed development in areas of gross motor adaptation and language. The initial clinical diagnosis of a genetic abnormal- 3. A shallow groove or indentation on the crest of ity was confirmed by definitive cytogenetic banding the maxillary alveolar ridge extending the length studies with the designation of Trisomy 8, mosaic of the buccal segments. (Figure 2). form (Figure 1). 4. Radiographs of the head taken at birth show the posterior deciduous teeth developing in a very Dental Findings superficial location on the crest of the bony al- veolus. The dental follicles were positioned in At age 11 months, the child was referred to the shallow depressions with alveolar bone encom- Pedodontic Service for evaluation because of the passing only the most radicular portions. mother's concern over the prematurely erupting and 5. Procumbent everted fleshy lips, open mouth ha- unsightly teeth. Dental examination disclosed the fol- bitus with mouth breathing and poor tonus of lowing findings: tongue and perioral musculature (Figure 3). 1. Broad palate with normal height, and wide alveo- Repeat examination of the child at 12 and 14 lar ridges. months showed a pattern of accelerated tooth erup- 2. Premature eruption of primary teeth. All pri- tion with enamel hvpoplasia on the maxillary primary mary teeth, except the second molars, were par- incisors, and first primary molar cusp tips and a tially or fully erupted. The primary central in- chalky appearance of the enamel of other teeth. cisors had erupted at eight weeks of age. The teeth were bucally positioned with hypoplastic brownish enamel suggesting incomplete matrix Discussion formation and calcification. Due to the preponderance of the mosaic condition PEDIATRIC DENTISTRY Vol. 2, No. 1 49 Figure 2. Oral findings include shallow indentation on the crest of the maxillary alveolar ridge, accelerated eruption pattern and enamel hypoplasia of the incisors and chalky appearance of the remaining teeth. in the reported cases of Trisomy 8, the spectrum of clinical features found is quite broad. The dilution of the full expression state of Trisomy 8 by the mosaic condition not only causes phenotypic variation among patients, but also asymmetrical stigmata in the same patient.17 The clinical features of this patient are shared by many genetic disorders, and although the pattern of the findings is suggestive of Trisomy 8, some authors do not feel that a syndrome is as yet Figure 3. Facial characteristics include procumbent 9 18 everted fleshy lips, poor tonus of tongue and perioral identifiable. ' One finding, however, has been re- musculature and open mouth habitus. ported as pathognomonic for Trisomy 8, that of deep longitudinal furrows on the soles19-20'21 (Figure 4). The plantar furrows have been present in this patient would also explain the buccal drifting observed in the since birth, however, they are not usually reported in erupting teeth, and perhaps explain Riccardi's obser- older Trisomy 8 patients and may disappear with ad- vation that in a 4-year-old male, the "mandibular vancing age. teeth projected beyond the maxillary teeth."15 This case report is the first to concentrate on oral The alveolar grooving, and premature eruption findings in Trisomy 8, and some interpretive comment found in this patient appear similar to instances re- is necessary. The everted lips found in this patient are ported by others,13-16 and may be linked to the radio- similar to those appreciated in most published photo- graphic evidence of a defect in tooth bud positioning. graphs. In this case, the lip positioning and contour If the tooth follicle develops in too shallow a position were interpreted as due to incompetence of the peri- within the alveolus, the crestal bone could remain dis- oral musculature. One of the most prominent features continuous with
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