نتایج جستجو برای: hypertelorism
تعداد نتایج: 501 فیلتر نتایج به سال:
RATIONALE Tricho-hepato-enteric syndrome (THES) is a rare disorder caused by mutations in the TTC37 or SKIV2L genes and characterized by chronic diarrhea, liver disease, hair abnormalities, and high mortality in early childhood due to severe infection or liver cirrhosis. PATIENT CONCERNS The patient is the second child of three siblings born to non-consanguineous healthy Japanese parents. She...
To cite: Chandran S, Raturi S, Pillay HM, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2013-201426 DESCRIPTION A full-term male baby was born to nonconsanguineous parents. At birth his growth parameters were appropriate for age. On examination he had hypertelorism, broad nasal root and a cleft lip. Cranial ultrasound at birth was grossly normal except f...
The purpose of this study was to determine rates of divorce in parents of children with various types of craniofacial anomalies and to analyze possible confounding factors. A 29-question survey was sent to parents of all children evaluated in the Craniofacial Centre between 1992 and 1997. Parents were questioned regarding pre- and postnatal marital stability, whether the child's facial anomaly ...
INTRODUCTION In the present study we report 36 cases of anterior encephaloceles treated at Clinic of Neurosurgery in the University Clinical Center of Kosova over a 24 year period. MATERIALS AND METHODS All 36 children were included in this retrospective study (1986 through 2009). Their ages ranged from 1 day to 10 years (mean 13 months); 20 were boys and 16 were girls. The commonest type of ...
the robert/sc (pseudothalidomide) syndrome is a rare autosomal recessive disorder, associated with phocomelia and craniofacial abnormalities. an anomalous fetus with lower limb phocomelia and micromelia, lumbar myeloschisis, upper limb and ribs defects and craniofacial abnormalities is reported whose diabetic mother took mebendazole and glibenclamide in early pregnancy. ultrasonographic finding...
The Doxorubicin hydrochloride, popularly known as Adriamycin, is among the most antitumoral drugs used in oncology practice. This is a glycosidic antibiotic from the anthracycline group, which acts directly on the G2/M period, leading to cell death. This study aimed at analyzing placental alteration and congenital malformations in Wistar rats fetuses who were exposed to the chemotherapeutic. Tw...
terized by ectodermal dysplasia (ED). The nectin-1 (N1) null mutant mice have a mild defect in skin, (Wakamatsu etal., 2007), but no severe phenotypes were reported, suggesting the compensation by other nectins. In this study, we tested this hypothesis by generating N1 and N3 compound mutant mice. We observed coexpression of N1 and N3 in the inner root sheath of hair follicles and in the suprab...
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