A syndrome of midface retraction, multiple radiological anomalies, renal malformations and hypertrichosis

1982 ◽  
Vol 62 (4) ◽  
pp. 382-382 ◽  
Author(s):  
A. Schinzel
Keyword(s):  
Renal Malformations

Turner syndrome patients with bicuspid aortic valves and renal malformations exhibit abnormal expression of X-linked inhibitor of apoptosis protein (XIAP)

2015 ◽  
Vol 28 (11-12) ◽  
Author(s):  
Ganesh S. Jevalikar ◽  
Margaret Zacharin ◽  
Mary White ◽  
Steven W. Yau ◽  
Winnie Li ◽  
...  
Keyword(s):  
Mrna Expression ◽  
Turner Syndrome ◽  
Quantitative Polymerase Chain Reaction ◽  
Inhibitor Of Apoptosis ◽  
Aortic Valves ◽  
Inhibitor Of Apoptosis Protein ◽  
Abnormal Expression ◽  
Apoptosis Protein ◽  
Renal Malformations ◽  
Bicuspid Aortic Valves

AbstractWe analyzed mRNA expression of X-linked inhibitor of apoptosis protein (XIAP) in patients with Turner syndrome (TS) and examined its association with phenotypic features.XIAP mRNA expression levels were investigated in 98 patients with TS in total RNA extracted from blood leucocytes by real time quantitative polymerase chain reaction.Levels of XIAP mRNA were significantly lower in patients with bicuspid aortic valves (BAV; n=13) than those without (log XIAP –1.17±0.3 vs. –0.94±0.2, p=0.002). Significantly higher expression of XIAP mRNA was seen in patients with a mosaic karyotype and renal malformations (log XIAP –0.79±0.3 vs. –1.0±0.3, p=0.03). No correlations were seen between XIAP and other manifestations.Abnormal expression of XIAP may be an important underlying mechanism in the development of BAV and renal malformations in TS. However, abnormal XIAP mRNA expression, as determined from peripheral mononuclear cells, does not appear to explain all the somatic and visceral stigmata of TS.

scholarly journals Congenital anomalies and associated risk factors in a Saudi population: a cohort study from pregnancy to age 2 years

BMJ Open ◽  
2019 ◽  
Vol 9 (9) ◽  
pp. e026351 ◽  
Author(s):  
Ahmed M Kurdi ◽  
Muhammad Ali Majeed-Saidan ◽  
Maha S Al Rakaf ◽  
Amal M AlHashem ◽  
Lorenzo D Botto ◽  
...  
Keyword(s):  
Risk Factors ◽  
Saudi Arabia ◽  
Risk Factor ◽  
Neural Tube ◽  
Congenital Anomalies ◽  
Tertiary Care ◽  
Chromosomal Anomalies ◽  
Saudi Population ◽  
Tertiary Care Centre ◽  
Renal Malformations

ObjectiveTo assess the three key issues for congenital anomalies (CAs) prevention and care, namely, CA prevalence, risk factor prevalence and survival, in a longitudinal cohort in Riyadh, Saudi Arabia.SettingTertiary care centre, Riyadh, Saudi Arabia.ParticipantsSaudi women enrolled during pregnancy over 3 years and their 28 646 eligible pregnancy outcomes (births, stillbirths and elective terminations of pregnancy for foetal anomalies). The nested case-control study evaluated the CA risk factor profile of the underlying cohort. All CA cases (1179) and unaffected controls (1262) were followed through age 2 years. Referred mothers because of foetal anomaly and mothers who delivered outside the study centre and their pregnancy outcome were excluded.Primary outcome measuresPrevalence and pattern of major CAs, frequency of CA-related risk factors and survival through age 2 years.ResultsThe birth prevalence of CAs was 412/10 000 births (95% CI 388.6 to 434.9), driven mainly by congenital heart disease (148 per 10 000) (95% CI 134 to 162), renal malformations (113, 95% CI 110 to 125), neural tube defects (19, 95% CI 25.3 to 38.3) and chromosomal anomalies (27, 95% CI 21 to 33). In this study, the burden of potentially modifiable risk factors included high rates of diabetes (7.3%, OR 1.98, 95% CI 1.04 to 2.12), maternal age >40 years (7.0%, OR 2.1, 95% CI 1.35 to 3.3), consanguinity (54.5%, OR 1.5, 95% CI 1.28 to 1.81). The mortality for live births with CAs at 2 years of age was 15.8%.ConclusionsThis study documented specific opportunities to improve primary prevention and care. Specifically, folic acid fortification (the neural tube defect prevalence was >3 times that theoretically achievable by optimal fortification), preconception diabetes screening and consanguinity-related counselling could have significant and broad health benefits in this cohort and arguably in the larger Saudi population.

scholarly journals Case report of a novel mutation of the EYA1 gene in a patient with branchio-oto-renal syndrome

2016 ◽  
Vol 19 (2) ◽  
pp. 91-94
Author(s):  
L Spahiu ◽  
B Merovci ◽  
V Ismaili Jaha ◽  
A Batalli Këpuska ◽  
H Jashari
Keyword(s):  
Novel Mutation ◽  
Abdominal Ultrasound ◽  
External Ear ◽  
Autosomal Dominant Disorder ◽  
Daily Hemodialysis ◽  
Bor Syndrome ◽  
Severe Renal Insufficiency ◽  
Renal Malformations ◽  
Ear Anomalies ◽  
End Stage

AbstractBranchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the coexistence of branchial cysts or fistulae, external ear malformation with pre-auricular pits or tags, hearing impairment and renal malformations. However, the presence of the main features varies in affected families. Here, we present a 16-year-old boy admitted to the Department of Nephrology at the Pediatric Clinic, University Clinical Center of Kosovo, Pristina, Republic of Kosovo because of severe renal insufficiency diagnosed 6 years ago, which progressed to end-stage renal failure. Clinical examination on readmission showed a pale, lethargic and edematous child, with auricular deformity, pre-auricular tags and pits as well as bilateral branchial fistulae. Laboratory tests revealed high blood urea nitrogen (BUN) 15.96 mmol/L and serum creatinine 633.0 µmol/L; low glomerular filtration rate (GFR) 12 mL/min./ 1.73 m2 and massive proteinuria 4+. Abdominal ultrasound showed bilateral kidney hypoplasia. A novel mutation of the EYA1 gene was confirmed. Daily hemodialysis is continuing until renal transplantation is done. This case is presented to increase awareness among general practitioners to consider BOR syndrome or other renal abnormalities in patients with branchial fistula and/ or external ear anomalies or similar findings in other family members.

scholarly journals Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up?

2018 ◽  
Vol 179 (3) ◽  
pp. 181-190 ◽  
Author(s):  
Laurence Dumeige ◽  
Livie Chatelais ◽  
Claire Bouvattier ◽  
Marc De Kerdanet ◽  
Capucine Hyon ◽  
...  
Keyword(s):  
Cell Function ◽  
Pubertal Development ◽  
External Genitalia ◽  
Growth Spurt ◽  
Normal Male ◽  
Early Management ◽  
Abnormal Growth ◽  
Renal Malformations ◽  
Male Phenotype ◽  
End Of Puberty

Objective Few studies of patients with a 45,X/46,XY mosaicism have considered those with normal male phenotype. The purpose of this study was to evaluate the clinical outcome of 45,X/46,XY boys born with normal or minor abnormalities of external genitalia, notably in terms of growth and pubertal development. Methods Retrospective longitudinal study of 40 patients followed between 1982 and 2017 in France. Results Twenty patients had a prenatal diagnosis, whereas 20 patients had a postnatal diagnosis, mainly for short stature. Most patients had stunted growth, with abnormal growth spurt during puberty and a mean adult height of 158 ± 7.6 cm, i.e. −2.3 DS with correction for target height. Seventy percent of patients presented Turner-like syndrome features including cardiac (6/23 patients investigated) and renal malformations (3/19 patients investigated). Twenty-two patients had minor abnormalities of external genitalia. One patient developed a testicular embryonic carcinoma, suggesting evidence of partial gonadal dysgenesis. Moreover, puberty occurred spontaneously in 93% of patients but 71% (n = 5) of those evaluated at the end of puberty presented signs of declined Sertoli cell function (low inhibin B levels and increased FSH levels). Conclusion This study emphasizes the need to identify and follow-up 45,X/46,XY patients born with normal male phenotype until adulthood, as they present similar prognosis than those born with severe genital anomalies. Currently, most patients are diagnosed in adulthood with azoospermia, consistent with our observations of decreased testicular function at the end of puberty. Early management of these patients may lead to fertility preservation strategies.

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