A patient with partial duplication 2q and partial deficiency 11q is reported. The propositus was delivered at 30 weeks gestation, with a birth weight of 1,390 g. He had severe hyaline membrane disease, intraventricular hemorrhage, bronchopulmonary dysplasia, hypotonia, psychomotor retardation, hearing loss, and other anomalies including a short bitemporal diameter, prominent occiput, low-set ears, exophthalmos, short nose with depressed nasal root, downturned mouth corners, narrow high-arched palate, micrognathia, a deep longitudinal groove over the sacrococcygeal region, clinodactyly, and abnormal dermatoglyphics. Chromosome analysis showed the following karyotype: 46,XY,der11,t(2:11)(q32.2;q25)pat.
Group B β-hemolytic streptococci have gained much attention in recent years as a cause of serious infection in the newborn. Two clinical syndromes have been defined as "early onset" fulminant septicemia and a "late onset" meningitis.1,2 Howard and McCracken,3 more recently, have documented some previously unrecognized clinical presentations of group B streptococcal disease. These include asymptomatic bacteremia, septic arthritis, osteomyelitis, ethmoiditis with orbital cellulitis, pneumonia with empyema, facial cellulitis, and conjunctivitis. The literature to date reports five instances of osteomyelitis due to group B streptococci as reported in four articles.3-6 This case report of group B streptococcal osteomyelitis is presented to emphasize the insidious nature of this infection in a neonate and the lack of systemic toxicity with which it occurs.
\s=b\ Hydrometrocolpos was diagnosed in a neonate shortly after birth. A large collection of fluid was immediately removed from the distended vagina; hymenotomy was performed. The infant has remained well for more than a year following treatment. A simple technique for rapid diagnosis permits safe and appropriate management of this potentially serious disorder.(Am J Dis Child 129: [1190][1191] 1975) Hydrometrocol pos is distention of the uterus and vagina by nonsanguineous fluid. Spence,1 reviewing the literature in 1962, found that 68 cases had been reported up to that time.Immediate recognition and treat¬ ment may be lifesaving. The enlarg¬ ing abdominal mass exerts pressure on the infant's urinary system, intes¬ tines, lungs, and affected blood ves¬ sels. The principal diagnostic objec¬ tive is to differentiate the fluid-filled vagina and uterus from a distended bladder or rectum. Treatment is simple provided there is no severe as¬ sociated anomaly; it is effective if rendered before embarrassment of other organs becomes extreme.Combined cystogram and vaginogram, lat¬ eral projection, demonstrating position and relative size of bladder and distended vagina and uterus. Vagina is seen to end abruptly, proximal to normal site of out¬ flow. Bladder is narrow structure located anterior to distended vagina. REPORT OF A CASEA girl weighing 3,380 gm (7.4 lb) was delivered normally from a 24-year-old woman with type O-positive blood and no serologie abnormality. The mother had previously given birth to two normal single infants after uneventful pregnancies.The mother's last menstrual period had occurred during scheduled withdrawal of use of an oral contraceptive agent (norethindrone acetate and ethinyl estradiol [Norlestrin]). She resumed taking the con¬ traceptive according to schedule. A cholecystectomy was performed within the following three weeks. During the next scheduled withdrawal of use of the contra¬ ceptive agent, no endometrium was shed. Her gynecologist tentatively attributed this to endocrine disturbance caused by the surgical procedure; later, it was believed that she was pregnant at the time of the cholecystectomy, because uterine size ap¬ peared to correlate with the total time ex¬ pended since the preoperative menstrual period. Her pregnancy was not otherwise complicated; she took no medicine other than vitamins and iron.In the delivery room, it was noted that when the infant cried, a large bulge ap¬ peared at the vaginal introitus; the vaginal opening was 2 to 3 cm wide. A pediatrie consultant found a large abdominal mass extending above the umbilicus. The rectum and external genitalia were normal except that the vagina was occluded transversely by a palpably thick-walled structure, ap¬ parently hymen, which had no opening and bulged when the baby cried or passed me¬ conium. A catheter was introduced into the bladder. Only a few milliliters of urine was obtained. A normal bladder, pushed for¬ ward by the mass, was demonstrated cystographically. An 18-gauge needle at¬ tached to a 20-ml syringe was ...
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