18-Trisomy in a 15-Year-Old Girl

Abstract

The patient, a 15-year-old girl, is the second oldest known survivor with 18-trisomy. Mosaicism seems unlikely as no normal cells were found in blood and skin cultures. The physical appearance of individuals with 18\ x=r eq-\ trisomy may become less characteristic with survival past the first few months of life.Indi vi dual s with autosomal abnor¬ malities, particularly with 18-tri¬ somy (E syndrome), are almost al¬ ways short-lived. From a study of 101 cases gathered from the literature, Weber and associates1 concluded, "The chance of survival to one month, one year and ten years is 70 per cent, 10 per cent and 1 per cent respectively." Geiser and associates2 in a more recent review showed few pa¬ tients survive past 1 year of age; since then, however, Bargman and Muselés ' have described the condition in an 8-year-old girl.We report the case of a 15-year-old girl because of comparative rarity of the condition in a child of this age.Report of a Case A girl weighing 2,270 gm (5 lb) was born at term in January 1956 to a 45-year-old mother and a 48-year-old father. A spon¬ taneous abortion had occurred between the first and second siblings in a sibship of six. During the seven-year interval between the births of the youngest sibling and the patient, the mother's menstrual cycle was irregular and she was unaware of this lat¬ est pregnancy until quickening occurred.The baby was admitted to hospital at 4 months of age because of nasal obstruction and difficulty in feeding from birth. She appeared dull and her eyes seemed small. At this time she weighed 3,860 gm (8 lb 12 oz) ( < third percentile) and head and chest circumference were both 37 cm.Breathing was noisy due to excess adenoid tissue and small nasal choanae. She was found to have a ventricular septal defect with pulmonary stenosis. Barium swallow showed laxity at the lower end of the esophagus and protrusion of gastric mu¬ cosa into it. Adenoidectomy and dilatation of nasal choanae corrected the nasal ob¬ struction.The infant was again admitted to hospi¬ tal at 9 months of age because of bronchopneumonia and found to be grossly mentally and physically retarded. Her third hospital admission, at 12 years of age, was for medical assessment prior to dental treatment. The patient now weighed 12 kg (27 lb), was 99 cm (3 ft 3 in) tall (both < third percentile) and was unable to sit up. The limb muscles were atrophie and there was a fixed-flexion deformity of the upper extremities at the elbow joints. Her hands were also flexed at the wrist with some degree of ulnar devia¬ tion. Fingers were narrow, tapering, and were not flexed. The legs were thin with in¬ creased muscle tone and both feet had equinovarus deformity (Fig 1, left). Both hips displayed limited abduction. Second¬ ary sexual characteristics were absent and external genitalia were infantile. Her head measured 47 cm and was asymmetrical be¬ cause of a large indentation in the left parietal occipital area. Her ears were lowset and nose beaked. She had random eye¬ ball movements. Both pupils were small, ir¬ r...

Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988–2004

“…Only a small number of these children survive the first year and very few cases are reported to live longer [Hook et al, 1965;Surana et al, 1972;Smith et al, 1978;Smith et al, 1989;Van Dyke and Allen, 1990;Kelly et al, 2002]. Although there are hundreds of medical articles describing trisomy 18, data regarding its natural history are lacking, in part, due to a small patient population.…”

Survival with trisomy 18—data from Switzerland

“…Most of the studies performed during the last 20 years (using data from between 21 and 106 children with trisomy 18) showed a mean survival of 3-14.5 days [Schinzel and Schmid, 1971;Carter et al, 1985;Goldstein and Nielson, 1988;Root and Carey, 1994;Brewer et al, 2002;Rasmussen et al, 2003]. Very few patients with trisomy 18 were reported to have survived longer than 10-15 years [Geiser and Schindler, 1969;Surana et al, 1973;Metha et al, 1986;Kelly et al, 2002;Petek et al, 2003] (see Rasmussen et al, 2003 for more detail).…”

Trisomy 18 in an 11 Year Old Girl

“…The shape of our patient's head has also changed; the occiput is no longer prominent, and the ears are not low-set although still elfin-like. These various changes in phenotype were commented upon by Warkany, Passarge and Smith (1966) and Surana et al (1972), so that a clinical diagnosis at a late stage may not be as straightforwaid as at birth. Our patient docs not show any signs of puberty; menses had not occurred in the fifteen year old reported by Hook, Lehrke, Roesner and Yunis (1965), and no signs of puberty were present in the patient of Surana et al (1972) reported at fifteen years of age.…”

“…These various changes in phenotype were commented upon by Warkany, Passarge and Smith (1966) and Surana et al (1972), so that a clinical diagnosis at a late stage may not be as straightforwaid as at birth. Our patient docs not show any signs of puberty; menses had not occurred in the fifteen year old reported by Hook, Lehrke, Roesner and Yunis (1965), and no signs of puberty were present in the patient of Surana et al (1972) reported at fifteen years of age. Subsequently, this patient has breast and pubic hair development at Tanner Stage III and she has menorrhagia requiring hormone treatment (Bain, personal communication).…”