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Clinical features of the Turner syndrome case including: (A) hypertelorism, epicanthic fold, downslanted palpebral fissure and left eye sclerocornea, (B) shield-shaped chest with widely spaced nipples and poor development of breast, (C) severe neck webbing with low posterior hairline, and (D) abnormal left hand creases and absent proximal flexion crease of the fifth right finger.
Source publication
To report the presence of Axenfeld-Rieger spectrum in a case of 45,X Turner syndrome. Design: Non-interventional case report.
A 13-year-old girl underwent complete genetic clinical evaluation comprising detailed family history taking with pedigree construction in addition to a thorough clinical examination and a number of investigations. A cytogene...
Contexts in source publication
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... opacity in the left eye was evident. Other abnormali- ties seen at the orbital region included epicanthic folds, squint, ptosis, flat supraorbital ridges, downslanted palpebral fissures ( Figure 1A). The nasal root was broad and the nasal bridge was depressed with a broad tip. ...
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... ridges, downslanted palpebral fissures ( Figure 1A). The nasal root was broad and the nasal bridge was depressed with a broad tip. The philtrum was long and very shallow. The patient also had prominent upper lip, high arched palate and posteriorly rotated low set ears. The chest was shield-shaped with widely spaced hypoplastic nipples (Fig. 1B). Marked webbing of the neck with a very low posterior hairline was also noted (Fig. 1C). The patient had abnormal left hand creases, absent proximal flexion crease of the fifth right finger (Fig. 1D), pes planus, partial syndactyly between second and third toes and hypoplastic nails of the fifth toes. The secondary sexual ...
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... and the nasal bridge was depressed with a broad tip. The philtrum was long and very shallow. The patient also had prominent upper lip, high arched palate and posteriorly rotated low set ears. The chest was shield-shaped with widely spaced hypoplastic nipples (Fig. 1B). Marked webbing of the neck with a very low posterior hairline was also noted (Fig. 1C). The patient had abnormal left hand creases, absent proximal flexion crease of the fifth right finger (Fig. 1D), pes planus, partial syndactyly between second and third toes and hypoplastic nails of the fifth toes. The secondary sexual characteristics were absent; no breast development was found and the pubic and axillary hair were ...
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... had prominent upper lip, high arched palate and posteriorly rotated low set ears. The chest was shield-shaped with widely spaced hypoplastic nipples (Fig. 1B). Marked webbing of the neck with a very low posterior hairline was also noted (Fig. 1C). The patient had abnormal left hand creases, absent proximal flexion crease of the fifth right finger (Fig. 1D), pes planus, partial syndactyly between second and third toes and hypoplastic nails of the fifth toes. The secondary sexual characteristics were absent; no breast development was found and the pubic and axillary hair were completely absent. Regarding the anthro- pometric measurements; the patient's height was far below the third ...
Citations
... b Abdalla and Nabil (2012); Afonso Lopes, Benador, Wacker, Wyss, and Sizonenko (1995); Aver 'ianov, Bogomazov, and Logunova (1977); ...
Turner syndrome is a sex chromosome abnormality in which a female has a single X chromosome or structurally deficient second sex chromosome. The phenotypic spectrum is broad, and atypical features prompt discussion of whether the known features of Turner syndrome should be further expanded. With the advent of clinical whole exome sequencing, there has been increased realization that some patients with genetic disorders carry a second genetic disorder, leading us to hypothesize that a “dual diagnosis” may be more common than suspected for Turner syndrome. We report five new patients with Turner syndrome and a co‐occurring genetic disorder including one patient with Li‐Fraumeni syndrome, Li‐Fraumeni and Noonan syndrome, mosaic trisomy 8, pathogenic variant in RERE, and blepharophimosis‐ptosis‐epicanthanus inversus syndrome. We also undertook an extensive literature review of 147 reports of patients with Turner syndrome and a second genetic condition. A total of 47 patients (31%) had trisomy 21, followed by 36 patients (24%) had one of 11 X‐linked disorders. Notably, 80% of the 147 reported patients with a dual diagnosis had mosaicism for Turner syndrome, approximately twice the frequency in the general Turner syndrome population. This article demonstrates the potential for co‐occurring syndromes in patients with Turner syndrome, prompting us to recommend a search for an additional genetic disorder in Turner patients with unusual features. Knowledge of the second condition may lead to modification of treatment and/or surveillance. We anticipate that increased awareness and improved diagnostic technologies will lead to the identification of more cases of Turner syndrome with a co‐occurring genetic syndrome.
... It is estimated to affect approximately 3% of all female fetuses (2). However, there appears to be a high fetal wastage with only 1% of these embryos surviving to term (3). TS is accepted as the one of the most common chromosomal abnormalities. ...
Background/aim: The genetic background of Turner syndrome (TS) is highly variable. The correlation between genotype and phenotype is not yet well understood. The aim of this study was to describe the frequencies and distributions of Turner karyotypes and to discuss the phenotype/genotype relation in a very large group of individuals with TS. Materials and methods: The karyotype results of 248 female participants were evaluated retrospectively.Results: Of 248 females with the Turner phenotype, 14.5% had normal karyotypes and 85.5% had Turner karyotypes. About 72.2% of the abnormalities were numerical aberrations and 27.8% were structural aberrations. The most frequent karyotype was monosomy X, which was found in 135 females (63.7%), followed by 44 mosaics (21%), 40 isochromosomes of the long and short arms of chromosome X (19.1%), and 17 deletions of the short and long arms of chromosome X (8.0%). One case of Robertsonian translocation and one case of mosaic TS with marker chromosome were detected. Conclusion: This study shows the frequency and distribution of karyotypes in females with TS. There is great value to be gleaned from studies of females with TS in furthering our understanding of the atypical clinical features associated with TS. Studies involving genetic analyses will be necessary to examine gene expression profiles in girls with TS and identify potential candidate genes underlying the atypical clinical features associated with TS.
... Some ophthalmologic works concentrate on eye symptoms which occur in Turner syndrome less often [10,13,18,19]. They are anterior eye segment dysgenesis [1,18], keratoconus [19], juvenile glaucoma [10] and retinal neovascularization [13]. The authors tried to find correlation between eye impairment and karyotype. ...
Turner syndrome is among the most common chromosomal aberrations. It is caused by a missing or anomaly of one X chromosome, alternatively a chromosomal mosaicism. It is often connected with a more frequent occurrence of some ocular diseases. In our study 81 girls and women with Turner syndrome from the age of 5 to 23 years old were examined. The occurrence of ocular diseases and their possible connection with karyotype was the main focus of our attention. Myopia had the highest incidence in these girls, further there were hyperopia, epicanthus, colour vision deficiency, amblyopia, strabismus and ptosis. The occurrence of colour vision deficiency was higher than in the general population where it differs in sexes. The occurrence of strabismus and ptosis was higher than in the general population. The total range of refractive errors was slightly higher than in the general population, with a different distribution according to karyotype. Hyperopia was recorded more often at the 45,X karyotype, namely 28 %, while for chromosomal mosaicism it was only in 18%. For myopia the ratio was reversed — chromosomal mosaicism in 31% and in 45,X karyotype in 26 %.In total, while comparing individual eye defects incidence in 45,X karyotype and chromosomal mosaicism, similar findings were recorded. These results were also assessed with the help of statistics.
... Konjenital kalp defekti ile birlikteliği daha az sıklıkta görülür. Literatürde sınırlı sayıda olgu bildirilmiştir (2)(3)(4)(5). Bizim olgumuzda görülen atrial yetmezliğin yaşlılığa bağlı olduğu kanısındayız. ...
Görme azlığı şikayeti ve anormal iris görünümü nedeni ile kliniğimize yönlendirilen 87 yaşındaki erkek hastanın yapılan muayenesinde, görme keskinlikleri tashihle her iki gözde 0.1 olarak bulundu. Göz içi basınçları applanasyon tonometrisi ile her iki gözde 10 mmHg olarak ölçüldü. Kornea kalınlıkları sağ gözde 445 mikron, sol gözde 467 mikron olarak ölçüldü. Düzeltilmiş göz içi basınçları sağ gözde 14.50 mmHg, sol gözde 13.51 mmHg idi. Biyomikroskop ile yapılan ön segment muayenesinde her iki gözde grade 3 nükleer skleroz ve asimetrik pupil anomalileri mevcuttu. Gonyoskopik incelemede minimal periferik ön yapışıklıklar ve arka embriyotokson mevcuttu. Dilate edilerek yapılan fundus muayenesinde her iki gözde C/D oranı 0.3 ve her iki göz makulası doğal idi. Yapılan sistemik incelemelerde ise minimal aort yetmezliği ve diş anomalisi dışında bir bulguya rastlanmadı.
Bu olgu sunumunda ileri yaşlara kadar semptomsuz seyreden Axenfeld- Rieger sendromlu bir olgunun göz ve sistemik bulguları irdelenmektedir.
Chromosomal aberrations affect the functionality of certain genes and/or their regulatory elements, leading to congenital anomalies. Congenital ocular and oculofacial anomalies are frequent in this group of patients. This chapter describes the ocular and systemic anomalies resulting from isolated aberrations of chromosome number or structure involving a single chromosome, as detected by karyotype, fluorescence in situ hybridization or chromosomal microarray. The authors are very grateful to Gabriela Repetto MD for reviewing this manuscript.
Pediatric endocrine disorders may affect the pituitary, thyroid, parathyroid, pancreas, adrenal and gonads. Endocrine disease may result in hormone deficiency or excess. Systemic and ocular pathology varies depending on the gland or glands involved. Management often requires a team approach amongst various specialties including but not limited to: endocrine, ophthalmology, genetics, oncology and neurosurgery. Each endocrine gland associated with various diseases and their ocular manifestations are discussed within the chapter.
