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Ring Chromosome 5 with Dental Anomalies

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Ring Chromosome 5 with Dental Anomalies PEDIATRICDENTISTRY/Copyright -~ 1981 by The American Academyof Pedodontics/Vol. 3, No. 4 CASE Ring chromosome 5 with dental anomalies Katherine Kula, DMDShivanand Patil, PhD James Hanson, MD Arthur Nowak, DMDHans Zellweger, MD Abstract Although ring chromosomesare observed in ahnost all manent molars is reported in one case2 autosomalgroups in man, they are rare. Wedescribe a male Although,~ some patients survive to adulthood) patient exldbiting cd du chat syndromein which most patients die in infancy due to severe respiratory cytogenetic studies demonstratethe presonse of a ring and feeding problems2 chromosome5. Deletion o£ the ring chromosome5 is found between the p15 and q35 bands. Dental, medical and Diagnosis is based on clinical features, abnormal cytogenetic findings are comparedto other ring chromosome crying during infancy, chromosomal studies, and der- 5 cases descMbedin literature. matoglyphic features. Diagnosis based soley on clini- cal features is difficult in somecases due to phenoty- Introduetion pic variability and to characteristics changing with Cri du chat syndrome, first described in 1963,~ is age. Clinical features are used, however, as indications characterized by a shrill high cry similar to that of a for confLrmatory chromosomal studiesY young cat. The cry is attributed to a hypotonic, dys- Cri du chat syndromeis usually attributed to a par- morphic larynx noted in some patients. ~ The cry may tial deletion, either terminal or interstitial, of the not be pathognomonic of the syndrome since it is ab- short arm of chromosome57 in the area of p14 to p15 sent in some patients and is reported in other chromo- band?~ The most commonly reported cause is de novo somal abnormalities? deletion occurring in approximately 85 percent of the The~,~ following traits may be found during infancy: cases, m~There are eight reported cases of ring chromo- microcephaly, round facies, apparent ocular hypertel- someu,l~ 5. orism, downwardslant of palpebral fissures, epican- Ring chromosomes result when deletions occur at thal folds, low-set posteriorly angt}.lated ears, preauri- the proximal and distal ends of the chromosome and cular tags, micrognathia/retrognathia, prominent the two broken ends fuse. 1~ Rings may not be present nasal bridge, muscular hypotonia, congenital defects in all cells of affected individuals, may break into of heart and genitourinary tract, abnormal dermato- smaller pieces (ring products), or may contain more glyphic findings, short metacarpals or metatarsals, than one centromereY Rings that look alike may not and "dysmorphic" hips. Various characteristics be alike due to different amounts of chromosomal change with age. The faces becomes thin and asym- deletions.~ metric? .7 Hypotonia disappearg ,8 and hyperactive re- Phenotype may be affected by the presence and flexes develop? The cry usually disappears or changes stability of a ring,~ the translocation of chromosome chaxacter, ml Hypertelorism and micrognathia are not 5 segments to other chromosomes)~.~ the translocation as apparent. Older patients may exhibit premature of other chromosomes onto chromosome 5, ~ or by greying, optic atrophy, strabismus, scoliosis, small varying amounts of deletion of chromosome 5. Pa- wings of the ilia, large frontal sinuses, and awkward, tients with ring chromosome 13, for example, appear shuffling gaits. 7 Almostall cases exhibit severe mental, to fall into three clinical syndromes with some over- growth, and motor retardation. ~° Breg et alJ report lapping features depending on how much of the ring is dental malocclusions in adults consisting of micro- lost in the major cell line. ~ There is, however, little in- gnathia, flaring of anterior teeth, overbite, openbite formation about ring chromosome 5. Clinical charac- and local malalignments. Analysis of patients’ pictures teristics of patients with ring chromosome5 are com- indicates Breg probably used the term overbite to de- pared in this paper for better understanding of the scribe marked overjet. The presence of high arched influence of a chromosomal ring information on palate is variableY Premature eruption of second per- cri du chat. PEDIATRIC DENTISTRY: Volume 3, Number 4 329 Case Report cells. Nearly 70 percent of the skin fibroblasts showed Medical History a ring chromosome 5. A 2310 gm white male was born to a 20-year-old It appears that a small amount of chromosomal mother and 24-year-old father. Following a normal material was lost from the clearly banded ring pregnancy, delivery took place several weeks later chromosome (Figure 2) at break points, 5pl5 and 5q35 18 20 than the expected date of birth. A weak high-pitched (long arm), as reported in other studies. ' Thus, the cry was noted shortly after birth. karyotype was designated as 46,XY,r(5)(pl5q35). The head circumference was 30 cm; fontanels and Both parents had normal karyotypes. sutures, including a metopic suture, were open. Body Dental Findings length was 45 cm. The nasal bridge protruded signifi- At the age of seven years and two months, the pa- cantly (Figure 1). Other dysmorphic facial features in- tient was first seen in the dental clinic at the Univer- sity Hospital School of the University of Iowa with a history of dental pain. The patient was extremely uncooperative. Exami- nation revealed micrognathia (Figure 3), an ulcerated Figure 1. Patient with ring 5 lesion on the maxillary lip, gingivitis, and poor oral chromosome disorder. hygiene. Occlusal examination indicated an openbite of approximately 2 mm, an overjet of approximately 15 mm with flaring anterior teeth, and a Class II molar relationship. Multiple carious lesions of the pos- terior teeth with radiographic evidence of internal root resorption were found. Class I incisal fractures were present on the maxillary central incisors. Ra- diographically, there was an apparent lack of alveolar bone around both maxillary centrals. Fusion of the eluded: large, low-set ears, widened external ear ca- mandibular left primary canine and lateral was noted, nals, retrognathia, downward slant of palpebral fis- as was the absence of the left permanent lateral. The sures, and ocular hypertelorism. Skeleti1 abnormali- mandibular right primary molar was markedly small- ties included a widened anterior-posterior sliest diam- er than the left, although no measurements were eter, short sternum, short fingers, and slight lumbar taken. The patient's dental age as determined by cal- kyphosis. A sixth supernumerary lumbar vertebra was cification was 7.5 years. Eruption was within normal noted on x-ray. A small ventricular septal defect, limits for a seven-year-old male. Hypomineralization noted at birth, spontaneously closed by three years of was present on the maxillary primary canines and age. Rectus diastus was present. The genitalia were mandibular permanent left lateral incisor. The maxil- normal. Extremities were proportional with consider- lary left first permanent molar was hypoplastic. able muscular hypertonia and hyperactive reflexes. Due to the lack of patient cooperation, distance the Both palms showed a single upper transverse Palmer parent traveled for treatment and, at that time, an crease. The toenails were small and concave. uncertain medical condition, the patient was hospital- Subsequent studies over seven years revealed severe ized. Oral rehabilitation utilizing nitrous oxide, oxy- developmental delay. The child sat at two years of age gen, and halothane anesthesia with nasoendotracheal and walked unsupported at five years of age. There intubation consisted of: examination, nine radio- was no language development although the patient graphs, oral prophylaxis, topical fluoride, three stain- did make sounds. There was marked growth failure at less crowns, six amalgam restorations, one occlusal seven years of age (height and weight below fifth per- sealant and two extractions. centile). The child had a history of pneumonia and Although the parent was instructed in positioning failure to thrive. brushing, flossing, and the use of daily topical fluo- Cytogenetic Findings Chromosome analysis was done on lymphocytes Table 1. Chromosome data on blood and skin fibroblast cells. and skin fibroblast cells using Giemsa and Quinacrine banding procedures. One hundred metaphase cells Tissue 45,r 44, + r 45, + r 46,-r, Number of from the peripheral blood lymphocytes were analyzed + ring cells over a seven-year span (Table 1). Eighty percent of products analyzed the cells had 46 chromosomes with a ring 5 (45, + r), 11 Blood 2 11 80 7 100 percent with 45 chromosomes with ring (44, + r) and 7 percent without ring product (46,-r, + ring products). Skin 27 5 89 14 135 The presence of two double rings was noted in ten 330 RING CHROMOSOME 5 WITH DENTAL ANOMALIES: Kula et al. Figure 2. Ring chromosome 5 with homologous chromo- some, r [5] (See cover photo) ride, both before and after oral rehabilitation, the pa- tient exhibited poor oral hygiene with severe gingivitis at the postoperative appointment. A white 0.5 x 0.5 Figure 3. Oral findings include rerognathia, flaring incisors, cm lesion was found on the soft palate but the ulcer- fusion, fractured maxillary central incisors, gingivitis, and ated lip lesion had healed. ulceration. Two months later, the patient was referred from the pediatric clinic with complaints of failure to thrive, bruxing and biting. The father asked that all teeth be extracted because he could not stand the Figure 4. Mandibular per- noise caused by the patient grinding his teeth. iapical radiograph taken at An examination
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