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E (16-18) Trisomy Syndrome: Analysis of 13 Cases

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E (16-18) Trisomy Syndrome: Analysis of 13 Cases Arch Dis Child: first published as 10.1136/adc.40.214.600 on 1 December 1965. Downloaded from Arch. Dis. Childh., 1965, 40, 600. E (16-18) TRISOMY SYNDROME: ANALYSIS OF 13 CASES BY L. J. BUTLER, G. J. A. I. SNODGRASS, N. E. FRANCE, L. SINCLAIR, and A. RUSSELL From the Queen Elizabeth Hospital for Children, London (RECEIVED FOR PUBLICATION MARCH 12, 1965) The syndrome ofmultiple congenital abnormalities associated with an additional autosome in the Denver Group 16-18 (E) was first described by Edwards, Harnden, Cameron, Crosse, and Wolff (1960). Its documentation has gradually been accumulated since, notably by Smith, Patau, Therman, and Inhorn (1960), Smith, Patau, Therman, and Inhorn (1962), Smith (1963), and Hecht, Bryant, Motulsky, and Giblett (1963). Morphological evidence is cited to show that the additional auto- some is unequivocally No. 18 in all cases of our series, with one exception, where a possible small duplication in the long arms of the additional chromosome is postulated. by copyright. The data on all 13 cases are presented in tabular __~~~~~~~~~~~~~:: FIG. la.-Case 5. Face in profile to demonstrate the 'Grecian nose', form, and the individual anomalies discussed in micrognathia, and flattened 'stretched-out' upper segment of pinna. order that their over-all pattern may be appreciated. Case 13 has been reported by Sinclair (1963). Analysis of Anomalies in 13 Cases (i) Anomalies Evident on Clinical Examination (Table 1). 6 cases the skull circumference Cranio-facial.-In http://adc.bmj.com/ was less than the normal range. The bifrontal diameter was reduced in all cases, and in the most marked examples this gave a false impression of widening of the parietal region. Although some degree of microcephaly was present in 6 cases, this was not immediately obvious on inspection because of the considerable relative retardation of facial *.s.. -;-_i8 ': .00:' 6w_S W......:tR.,. and variable of of both on September 24, 2021 by guest. Protected growth degree hypoplasia FIG. Ib.-Case 7. Elfin appearance of the second of two facial maxillae and mandible. The supra-orbital ridges categories. were poorly developed in most cases, and the orbits were shallow. Abnormal occipital prominence is reported as being common (Finley, Finley, and cases in which it was ascertained and in no case was Carte, 1963; Voorhess, Vaharu, and Gardner, 1962; it greater than the mean. In the extreme instances Smith et al., 1962; Smith, 1963). None of the (Fig. la) there appeared to be complete continuity of present series showed this finding. It is probable frontal and nasal bones, a so-called Grecian nose, that the marked retardation of facial growth is while in others nasal bridge development was normal responsible for this impression. The occipito- (Fig. lb). Where no true bridge exists, the associa- frontal circumference was below the lowest limits of tion of this with the other cranio-facial features normality in relation to birth weight in 6 of the 11 constitutes an unmistakable face. Radiography of 600 Arch Dis Child: first published as 10.1136/adc.40.214.600 on 1 December 1965. Downloaded from THE E (16-18) TRISOMY SYNDROME 601 TABLE 1 CLINICAL FINDINGS Case No. Total 1 2 3 4 5 6 7 8 9 10 11 12 13 .I -I I- l l~~~~~~~~~~~I Sex M F F F F F F M F IF F M 10 F 3 M Race c C c N c c C N c c C C c 2 N 11 C Gestation (wk.) 36 42 40 36 37 42 42 42 40 43 40 38 42 Birth weight (g.) 1332 2097 1998 1445 1700 2607 <2267 3402 2097 2295 1756 ! 2239 2182 Resuscitation difficulty + + I + 9/13 Age at death (days) 4 66 31 SB 18 9 60 31 49 22 21 29 8 Craniofacial Narrow bifrontal diameter + 13/13 Small face. + 13/13 Micrognathia + + + 13/13 Hypoplasia of orbital ridges + + + + 8/13 Mild microcephaly + + + + + 6/11 Epicanthic folds + + 7/10 Narrow palpebral fissures + + + 12/12 Ocular defect + 3/12 Low-set ears + + + 9/13 Cartilaginous deficiency ears + 10/13 Atretic auditory meatus 9 + 2/13 Abnormally situated auditory + meatus + 9 6/13 Small mouth + + + 13/13 High arched palate 9 + + 2/13 Neck webbing ± 7/13 Facial palsy + 3/Il Thorax and Abdomen + Hypermobile shoulders + 10/10 Partial agenesis of clavicles 9 ++ + 2/13 + Short sternum + + + + 6/12 Wide-set nipples 9 + + 6/9 Para-umbilical hernia + ++ + 2/13 Imperforate anus + + 1/13 Abnormal genitalia + 2/13 by copyright. Limbs Flexion deformity of fingers 10/13 Flexion deformity of wrists 5/13 Flexion deformity of elbows 3/13 + Flexion deformity of hips + 2/13 Aplasia radius + 1/13 Aplastic or hypoplastic thumb 9/13 Short hallux 13/13 Syndactyly 2nd and 3rd toes 8/11 Lobster claw deformity 1/13 Protuberant heels .. 9/13 Hypoplasia of nails 4/9 Hypertonia 11/12 http://adc.bmj.com/ + = Presence ascertained. Absent. ? = Not known. Race C = Caucasian. N = Negro. SB = Stillborn. M = Male. F = Female. the skull (Fig. 2) showed no typical defect, apart 1962), corneal opacity (Smith, 1963), and lens from poor facial growth; the occiput seems promi- opacity (Smith et al., 1960) have been described. nent, but this was not apparent clinically. All but The ears were considered to be low set in 9 cases one case had narrow palpebral fissures. The where the uppermost point of the pinna lay below impression of 'ptosis' derived from an inability to the outer canthus of the eye. Deficiencies in on September 24, 2021 by guest. Protected separate completely the eyelids. In some cases, the cartilaginous formation of the external ear varied impression of proptosis, contributed to by shallow- from a rudimentary skin ridge (Fig. 3), to being ness of the orbits, was exaggerated by the hypoplasia paper thin and rather elephantine (Fig. I a), to of the supra-orbital ridges. Case 5 had microph- flattening of the pinna superiorly with primitive thalmus on the left, and Case 6 had bilateral hazy helical development. In Case the skin of the scalp corneal opacities. Case 12 showed a coloboma of was directly reflected over the pinna which could not the choroid involving the optic disc on the right, be pulled forward. Abnormalities of the external while the coloboma was confined to the disc on the auditory meatus were found in 7 cases, ranging from left. Optic abnormalities do not appear to be complete atresia (Fig. 3), or an extremely low loca- common in Group E trisomy, though optic atrophy tion, to small size and excessive anterior direction. and glaucoma (Townes, Manning, and DeHart, Unilateral meatal atresia was present in 2 cases, and Arch Dis Child: first published as 10.1136/adc.40.214.600 on 1 December 1965. Downloaded from 602 BUTLER, SNODGRASS, FRANCE, SINCLAIR, AND RUSSELL kI FIG. 2.-Case 10. Skull radiograph showing non-canalization of FIG. 3.-Case 10. Cartilaginous deficiency of ear with atretic external petrous temporal bone. auditory meatus. was associated with a rudimentary external ear. line in half of our cases, and showed varying degrees Fig. 2 illustrates absence of canalization of the of hypoplasia. petrous temporal bone on radiography. In only two cases were the ears normal. The mouth was small Cardiovascular System. A systolic murmur was by copyright. in all our cases and tended to be triangular in some. noted in the 12 born alive, in all but one appearing In Cases 4 and 10 the palate was high and arched, within the first three days of life. but there were no cases of cleft lip or palate. Peri- pheral right-sided facial palsy was seen in 3 cases. Abdomen. Inguinal herniae were noted in 11 of 16 Seventh nerve palsy has been noted previously cases in Smith's review (1963). No inguinal hernia (Smith et al., 1962; Holman, Erkman, Zacharias, and was found in this series, but two examples of para- Kock, 1963), and has invariably been right-sided. umbilical hernia occurred and were associated with In 2 cases there was associated atresia of the right marked diastasis recti and gross bulging of the external auditory meatus, and it is possible that this epigastric area on crying. Clinical evidence of http://adc.bmj.com/ could affect the course of the 7th nerve, as sometimes pyloric stenosis emerged in 2, Cases 3 and 12, with seen in the first visceral arch syndrome. Neck post-mortem confirmation in Case 3. webbing was bilateral in 6 cases and unilateral in 1; a recent review (Finley et al., 1963) revealed this in 6 Limbs. Hypertonia was extremely marked in of 8 cases where sought. some infants, and was present in 11 of 12 cases. It is a constant feature in the reviews, but in one case Thorax. The most common clinical anomaly in (Finley et al., 1963) there was striking hypotonia. this series was hypermobility of the shoulders which Anomalies of the limbs, particularly of distal seg- on September 24, 2021 by guest. Protected could be unduly approximated. The sternum was ments, are consistent in this syndrome and emphas- short, with a 'shield like' thorax and wide subcostal ized in all the published reviews. A curiously angle in half the cases; Finley et al. (1963) noted frequent posture adopted by 6 cases was created by these features in the records of 13 of 15 cases where abduction of the arms at the shoulder and flexion at sought, while Smith (1963) found them in 14 out of the elbow, the so-called 'surrender position'. 16. In 2 (Cases 2 and 13) the medial third of both Flexion deformities of the fingers with abduction of clavicles was absent and the lateral portions were the thumb across the palm and the index finger over- extremely thin.
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