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Alaa Ebrashy, Asim Kurjak, Abdallah Adra, Labaran Dayyabu Aliyu, Tuangsit Wataganara, Renato Augusto Moreira de Sá, Ritsuko Pooh, Cihat Sen, Milan Stanojevic
Mid trimester fetal anatomy scan is a fundamental part of routine antenatal care. Some U/S soft markers or controversial U/S signs are seen during the scan and create some confusion regarding their relation to fetal chromosomal abnormalities. Example of these signs: echogenic focus in the heart, echogenic bowel, renal pyelectasis, ventriculomegaly, polydactely, club foot, choroid plexus cyst, single umbilical artery. We are presenting an evidence based approach from the literature for management of these controversial U/S signs...
March 2016: Journal of Perinatal Medicine
Rajdhar Dutt, Chandrakala Dutt
7 days old baby was admitted in Kamla Raja Raja Hospital with complaints of swelling on upper limb and lower limb. Polydactly of fingers and toes were present. All systems were normal Lab investigation - Blood examination was normal Ultrasound of abdomen, Echocardiography and CT scan of brain - Normal.
July 2012: Journal of Clinical Neonatology
Ahmed Farag Elhassanien, Hesham Abdel-Aziz Alghaiaty
BACKGROUND: Joubert Syndrome (JS) is a rare genetic developmental disorder, first identified in 1969. In patients with JS, certain regions of the brain (mainly cerebellar vermis and brainstem) are underdeveloped or malformed. This can lead to impaired attention, visual, spatial, motor, language and social functional skills. JS is characterized by a host of features, many of which do not occur in every patient. AIM OF THE STUDY: To spotlight and increase awareness of clinical profile and neuroimaging findings of children with Joubert syndrome...
April 2013: Annals of Indian Academy of Neurology
Cristóbal A Passalacqua, Victor P Villegas, Mariana I Aracena, Cecilia X Mellado
The combination of Dandy-Walker malformation, other central nervous system anomalies, and postaxial polydactyly has been reported previously in two pairs of siblings. We propose the name 'Pierquin syndrome' for this combination and we report a new patient with this disorder.
April 2013: Clinical Dysmorphology
Seshikanth Middela, Konstantinos Polizois, Alison J Bradley, Poduri N Rao
Bardet-Biedl syndrome is an autosomal recessive disorder with obesity, polydactly, retinitis pigmentosa, hypogenitalism, intellectual impairment and varying degree of renal abnormalities. Fewer than ten cases of paediatric renal transplantation for BBS have been reported in literature so far. This is the only case report of BBS transplant urolithiasis which was dealt with percutaneous nephrolithotomy and has been stone free for seven years. This is a complex case with a rare genetic disorder, renal transplant, renal stone, ileal conduit, long loop and inversely placed kidney...
2009: Cases Journal
Ping-yang Chen, Zong-de Xie, Yong Wu, Mei-jun Ji, Si-qing Zhao
OBJECTIVE: To investigate and analyze the occurrence of 64,101 perinatal birth defects from 2000 to 2004, to determine the tendency of the incidence rate of birth defects and perinatal mortality, and to explore feasible and effective intervention strategy. METHODS: We investigated 64,101 perinatal infants who were born in 13 hospitals in Changsha from January 2000 to December 2004. The incidence rate of all birth defects, mortality of perinatal infants, the incidence rate of various kinds of birth defects, and the component rate of birth defects were analyzed...
June 2007: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
M V C de Silva, H Senanayake, K D V P Siriwardana
Meckel Gruber syndrome is an uncommon, lethal, autosomal recessive disorder, associated consistently with polycystic kidneys, posterior encephalocoele and polydactly. We report three cases in non-consanguineous marriages, suggesting that the single gene defect occurs more commonly in non-consanguineous marriages than mutant genes associated with other autosomal recessive disorders that are usually related with consanguineous marriages. The usefulness of prenatal diagnosis is discussed.
March 2004: Ceylon Medical Journal
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