1,721,246 research outputs found
Roberts-SC syndrome, a rare syndrome and cleft palate repair
No full textRoberts SC syndrome is a rare syndrome with only 17 previously recognized patients reported in medical literature. The syndrome is characterized by multiple malformations, particularly, symmetrical limb reduction, craniofacial anomalies such as bilateral cleft lip and palate, micrognathia, and severe growth and mental retardation. Our patient, a young child of five years having Roberts-SC, was successfully operated for cleft palate under general anesthesia. The main features of the syndrome and the technical problems of anesthesia and surgery are discussed in this repor
Roberts-SC syndrome, a rare syndrome and cleft palate repair
No full textRoberts SC syndrome is a rare syndrome with only 17 previously
recognized patients reported in medical literature. The syndrome is
characterized by multiple malformations, particularly, symmetrical limb
reduction, craniofacial anomalies such as bilateral cleft lip and
palate, micrognathia, and severe growth and mental retardation. Our
patient, a young child of five years having Roberts-SC, was
successfully operated for cleft palate under general anesthesia. The
main features of the syndrome and the technical problems of anesthesia
and surgery are discussed in this report
Roberts-SC syndrome, a rare syndrome and cleft palate repair
No full textRoberts SC syndrome is a rare syndrome with only 17 previously recognized patients reported in medical literature. The syndrome is characterized by multiple malformations, particularly, symmetrical limb reduction, craniofacial anomalies such as bilateral cleft lip and palate, micrognathia, and severe growth and mental retardation. Our patient, a young child of five years having Roberts-SC, was successfully operated for cleft palate under general anesthesia. The main features of the syndrome and the technical problems of anesthesia and surgery are discussed in this report
Roberts-SC syndrome, a rare syndrome and cleft palate repair
Full text linkRoberts SC syndrome is a rare syndrome with only 17 previously
recognized patients reported in medical literature. The syndrome is
characterized by multiple malformations, particularly, symmetrical limb
reduction, craniofacial anomalies such as bilateral cleft lip and
palate, micrognathia, and severe growth and mental retardation. Our
patient, a young child of five years having Roberts-SC, was
successfully operated for cleft palate under general anesthesia. The
main features of the syndrome and the technical problems of anesthesia
and surgery are discussed in this report
Roberts-Sc Phocomelia Syndrome with Exencephaly
No full textpeer reviewedWe report a 18 weeks old fetus with the typical limb reduction anomalies of SC phocomelia syndrome, associated with exencephaly and unilateral anophthalmia, a feature previously reported in only 2 cases of severe Roberts syndrome. This observation brings another argument for lumping both diseases in a unique Roberts-SC phocomelia syndrome. Diagnosis was settled by the observation of premature centromeric splitting
Cytogenetic diagnosis of Roberts SC phocomelia syndrome: First report from Kashmir
Full text linkAbstractThere are several syndromes in which specific mitotic chromosomal abnormalities can be seen, like premature centromere separation, premature (sister) chromatid separation, and somatic aneuploidies. Identifications of such specific cytogenetic findings can be the key factor that leads towards the diagnosis of syndromes like Roberts SC phocomelia. The case presented here as Roberts SC phocomelia syndrome was identified as a child with multiple congenital anomalies and dysmorphic features. Conventional cytogenetic analysis of the case revealed premature sister chromatid separation. The premature centromeric separation was also confirmed by C banding analysis of the child. It is the first and the only case of Roberts SC phocomelia diagnosed from this part of the world. The present case report emphasizes the importance of conventional cytogenetics in the diagnosis of such syndromes
A Rare Lethal Skeletal Dysplasia: Roberts-SC Phocomelia Syndrome
Full text linkAmaç: Postpartum dönemde yapılan fizik muayene bulguları ve görüntüleme yöntemleriyle Roberts-SC sendromu
düşünülen bir olgunun sunumunu amaçladık.
Olgu Sunumu: Yirmi sekiz yaşında, G5P2 olan gebe hasta
dış merkezden polikliniğimize iskelet displazisi ön tanısıyla
refere edildi. Yapılan ileri düzey ultrasonografik (USG)
değerlendirmede fetusun ortalama 19 hafta ile uyumlu
olduğu, her iki üst ve alt ekstremitelerin proksimal ve distalinde ileri derecede kısalık (şiddetli mikromeli), vertebral
kemik yapılarda demiyelinizasyon, bilateral koroit pleksus
kistleri ve toraks ön-arka çapının azaldığı izlendi. Mevcut
bulgularla fetal letal iskelet displazisi düşünüldü. Anormal
USG bulguları nedeniyle aileye fetal kromozom analizi
önerildi, fakat kabul edilmedi ve gebeliğin devamı yönünde
karar alındı. Mükerrer sezaryen endikasyonuyla 2700 g, 42
cm boyunda, 3-4 APGAR skorlu bir kız bebek sezaryenle
doğurtuldu. Yenidoğan postpartum 24 saat içinde kaybedildi.
Sonuç: Roberts-SC fokomeli sendromu değişik klinik bulguların bir arada bulunduğu nadir görülen otozomal resesif (OR) kalıtım gösteren bir hastalıktır. Prenatal ultrasonografik değerlendirme ve sitogenetik incelemelerde erken
sentromer ayrılmasının bulunması diğer iskelet displazilerden ayrımını sağlayabilir. Hastalara sonraki gebeliklerinde fetal anomalinin erken tespiti ile genetik danışmanlık
hizmetinin verilmesi önem göstermektedir.Objective: We aimed to present the case who was thought
to have had Roberts-SC syndrome with postpartum physical examination and imaging findings.
Case: A 28-year-old pregnant patient with gravida-5,
parity-2 was referred to our clinic with the diagnosis of
skeletal dysplasia. At advanced ultrasonographic examination, fetal development was at 19 weeks. There was severe
shortness (micromelia) in both the upper and the lower
parts of both upper and lower extremities, demineralisation
in vertebral bony structures, bilateral choroid plexus cysts
and decreased anteroposterior chest diameter. Lethal skeletal dysplasia was considered with the present findings.
Due to the abnormal USG findings, fetal chromosome
analysis was recommended but the family didn’t accept the
test and decided to continue with the pregnancy. Due to the
previous cesarian sections, repeat cesarian section was
indicated and a 2700 gr, 42 cm baby girl was born with an
Apgar score of 3-4. The newborn died within 24 hours.
Conclusion: Roberts-SC phocomeia syndrome is a rare
disorder with autosomal recessive inheritance and varying
clinical findings. Early centromere separation on cytogenetic analysis and prenatal ultrasonography could help differentiate this entity from other skeletal dysplasias. Genetic
counselling is important in order to be able to detect any
possible fetal anomaly in future pregnancies
Evolutionary psychology and perfume design
No full textWe argue that the process of perfume design would be enhanced if it was developed with greater understanding of the communicative value of the underlying body odour of the individual who uses it? Evolutionary psychology has, and will continue to, produce insights into the informative capacity of body odour in human perception and its role in social interactions, in five main areas: individual recognition cueing and kin-related behaviour, cues of current state, mediation of female reproductive physiology, cues of underlying good-genes, and cues of complementary genes in partner choice. Since these cues have been shaped by selection over evolutionary time, and play a role in co-ordination of key social interactions, incorporation of this knowledge into perfume design could potentially provide a springboard for transforming the success of specific perfumes. We discuss several promising possible avenues to take this process forward, as well as possible problems with the approach. On balance, we see potential to harness insights from evolutionary psychology to increase both the potency of perfume function and the strategies employed in its marketing
Spontaneous intracranial hemorrhage and multiple intracranial aneurysms in a patient with Roberts/SC phocomelia syndrome
No full textRoberts/SC phocomelia syndrome (RBS) is a rare but distinct genetic disorder with an autosomal recessive inheritance pattern. It has been associated with microcephaly, craniofacial malformation, cavernous hemangioma, encephalocele, and hydrocephalus. There are no previously reported cases of RBS with intracranial aneurysms. The authors report on a patient with a history of RBS who presented with a spontaneous posterior fossa hemorrhage. Multiple small intracranial aneurysms were noted on a preoperative CT angiogram. The patient underwent emergency craniotomy for evacuation of the hemorrhage. A postoperative angiogram confirmed the presence of multiple, distal small intracranial aneurysms.</jats:p
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