XX/XO MOSAICISM IN NINE PREADOLESCENT GIRLS

PEDIATRICS ◽  
1966 ◽  
Vol 38 (6) ◽  
pp. 972-981
Author(s):  
José Carneiro Leāo ◽  
Mary L. Voorhess ◽  
Robert J. Schlegel ◽  
Lytt I. Gardner
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Short Stature ◽  
Screening Test ◽  
Congenital Heart ◽  
Medical Advice ◽  
Present Series ◽  
Preliminary Screening ◽  
Buccal Smear ◽  
Sex Chromatin

Clinical and chromosomal studies are presented on nine preadolescent girls with XX/XO mosaicism, investigated because of short stature alone or in association with other complaints. Short stature was the sole reason for seeking medical advice in most of the cases and was the most important clue in making the diagnosis, since these patients do not have the "textbook picture" of Turner's syndrome. All nine patients were under the 3rd percentile for height. No lymphedema, web neck, or congenital heart disease was observed in the present series. The quantitative buccal smear for sex chromatin was found to be a useful preliminary screening test in indentifying these patients. The possibility of XX/XO mosaicism should be explored in all girls with unexplained short stature.

scholarly journals Pulse Oximetry and Congenital Heart Disease Screening: Results of the First Pilot Study in Morocco

2020 ◽  
Vol 6 (3) ◽  
pp. 53
Author(s):  
Nadia El Idrissi Slitine ◽  
Fatiha Bennaoui ◽  
Craig A. Sable ◽  
Gerard R. Martin ◽  
Lisa A. Hom ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Pilot Study ◽  
Pulse Oximetry ◽  
Screening Test ◽  
Congenital Heart ◽  
False Negative ◽  
University Hospital ◽  
Critical Congenital Heart Disease ◽  
Negative Case

Congenital heart disease (CHD) is the most common congenital malformation. Diagnosis of critical congenital heart disease (CCHD), the most severe type of congenital heart disease, in a newborn may be difficult. The addition of CCHD screening, using pulse oximetry, to clinical assessment significantly improves the rate of detection. We conducted a pilot study in Morocco on screening neonates for critical congenital heart disease. This study was conducted in the maternity ward of Mohammed VI University Hospital of Marrakesh, Morocco, and included asymptomatic newborns delivered between March 2019 and January 2020. The screening of CCHD was performed by pulse oximetry measuring the pre- and post-ductal saturation. Screening was performed on 8013/10,451 (76.7%) asymptomatic newborns. According to the algorithm, 7998 cases passed the screening test (99.82%), including one inconclusive test that was repeated an hour later and was normal. Fifteen newborns failed the screening test (0.18%): five CCHD, five false positives, and five CHD but non-critical. One false negative case was diagnosed at 2 months of age. Our results encourage us to strengthen screening for CCHD by adding pulse oximetry to the routine newborn screening panel.

scholarly journals Evaluation of Newborn Screening Test for Critical Congenital Heart Disease (Cchd) in a Private Medical Center in Mexico and its Implications for being at 2550 Meters above Sea Level

2021 ◽  
Vol 6 (2) ◽  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Sea Level ◽  
Screening Test ◽  
Congenital Heart ◽  
Medical Center ◽  
Critical Congenital Heart Disease ◽  
Fetal Stage ◽  
Pulse Oximetry Screening

Pulse oximetry screening test (POT) has been shown to be useful for in early detection of critical congenital heart disease (CCHD). The precise oxygen saturation expected at altitudes above 1500 meters above sea level is unknown, and its usefulness in children born above this height is also unknown. The target is to describe the results obtained from the POT in 100 apparently healthy newborns in a private hospital at 2550 meters above sea level where most of them were evaluated by one or more fetal-stage ultrasounds for the detection of CCHD among other things. Sex, resuscitation and weeks of gestation did not alter the results. 95 patients had “normal” prenatal ultrasound, of which 32% tested positive POT, and CCHD was also ruled out after clinical follow-up. It was concluded that all the patients with a positive test were healthy. We suggest possibility of modifying the POT parameters in order to avoid false positives is also discussed.

scholarly journals Klippel Feil Syndrome: A Case Report

2020 ◽  
Vol 19 (1) ◽  
pp. 78-81
Author(s):  
Dhananjoy Das ◽  
M A Chowdhury Arzu ◽  
SM Zafar Hossain
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Case Report ◽  
Head And Neck ◽  
Short Stature ◽  
Neurological Deficit ◽  
Congenital Heart ◽  
Good Prognosis ◽  
Short Neck ◽  
Clinical Triad

Klippel-Feil Syndrome (KFS) is a complex syndrome comprises of classical clinicaltriad of short neck, limitation of head and neck movements and low posteriorhairline. This syndrome is resulting from failure of the normal segmentation ofcervical vertebra.In this present case in addition to classical clinical triad we have found short stature,scoliosis at cervico- dorsal junction and sprengel deformity of the shoulder. Wedidn’t find any association of hearing impairment, congenital heart disease andrenal abnormalities. There was no any neurological deficit and normal schoolperformance.Patient with KFS usually have good prognosis if cardiopulmonary, genitourinary,auditory problems are identified and treated early. Chatt Maa Shi Hosp Med Coll J; Vol.19 (1); January 2020; Page 78-81

Oxygen Saturation as a Screening Test for Critical Congenital Heart Disease: A Preliminary Study

2002 ◽  
Vol 23 (4) ◽  
pp. 403-409 ◽  
Author(s):  
T.R. Hoke ◽  
P.K. Donohue ◽  
P.K. Bawa ◽  
R.D. Mitchell ◽  
A. Pathak ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Oxygen Saturation ◽  
Screening Test ◽  
Congenital Heart ◽  
Critical Congenital Heart Disease ◽  
Preliminary Study
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