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2009 SEP 8 ... According to recent research published in the journal Birth Defects Research Part A, Clinical and Molecular Teratology, "Pena and Shokeir described the phenotype of two sisters in ... of reported cases by searching Online Mendelian Inheritance in Man, Medlines, the London Dysmorphology Database, and the references found in these articles." "These case ...
2009 JUL 27 ... (NASDAQ:BMRN) announced that patient enrollment has been completed for the Phase I/II clinical trial for BMN-110 or N-acetylgalactosamine 6-sulfatase (GALNS), intended for the ... impaired breathing and walking, recurrent infections, impaired bone and joint function, dysmorphology and an overall impaired quality of life. The rapid accrual of patients for the Phase ...
2009 FEB 12 ... pattern of malformations in liveborn infants," scientists writing in the journal Clinical Dysmorphology report.
"Few reports of affected adult individuals have been observed. ...
2009 FEB 23 ... wrote J.R. Scott and colleagues.
The researchers concluded: "Clinical symptoms frequently associated with increased intracranial pressure are improved with ... vault expansion. In all cases, the indication for surgery was treatment of the cranial dysmorphology. The authors performed a retrospective review of all patients (n = 17) undergoing ...
2009 FEB 9 ... reported phenotype."
Velinov and colleagues published their study in Clinical Dysmorphology (De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male ...
2009 MAR 16 ... also been detected in a small number of cases," scientists writing in the journal Clinical Genetics report.
"We report a patient with classical features of TCS ... hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, telecanthus, small nose and full cheeks). Both autosomal ...
2009 NOV 17 ... syndrome." Gupta and colleagues published the results of their research in Clinical and Experimental Nephrology (Noonan syndrome: crossed fused ectopic kidneys and focal ... New Delhi, India, "Noonan syndrome is characterised by short stature, typical facial dysmorphology and congenital heart defects. Urogenital abnormalities are reported in 10% of the ...
2008 DEC 30 ... developmental delay in some but not all patients," scientists writing in the journal Clinical Dysmorphology report.
"The radiological findings are distinctive and comprise short ...
2008 AUG 4 ... a more lethal condition."
Faqeih and colleagues published their study in Clinical Dysmorphology (Localized acalvaria with craniosynostosis....
2008 AUG 7 ... patellar subluxation."
Odriscoll and colleagues published their study in Clinical Dysmorphology (Bilateral camptodactyly and recurrent patellar dislocation: a new sign of 22q11 ...
2008 SEP 22 ... detectable neuropathology," scientists writing in the journal Alcoholism - Clinical and Experimental Research report.
"Our previous structural MRI study ... "Our previous structural MRI study demonstrated only modest brain dysmorphology of the alcohol-preferring (P) rat with average blood alcohol levels (BALs) of 125 mg/dl ...
2008 DEC 29 ... maternal relatives."
Dursun and colleagues published their study in Clinical Dysmorphology (Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a ...
2008 SEP 16 ... Elliott and colleagues published their study in Birth Defects Research Part a - Clinical and Molecular Teratology (The association of split hand foot malformation (SHFM) and ... with CHD to evaluate the various etiologies of this combination of findings. The London Dysmorphology Database also served as a resource to identify syndromes with this combination of ...
2008 NOV 18 ... are also presented."
Vuorela and colleagues published their study in Clinical Dysmorphology (A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features. ...
2008 DEC 30 ... descriptive study of 18 cases of CLOVES syndrome,' are detailed in a study published in Clinical Dysmorphology. According to recent research from the United States, "Overgrowth syndromes with ...
2008 NOV 18 ... in this patient."
O'Driscoll and colleagues published their study in Clinical Dysmorphology (Four limb syndactyly, constriction rings and skin tags; amniotic bands or ...
2008 JUL 1 ... and noninvasively. Before morphometry using digital photogrammetry can be applied in clinical and research practice, it must be assessed against direct anthropometry. To evaluate the ... during a patient examination is the standard technique for quantifying craniofacial dysmorphology, as well as for surgical planning and outcome assessment. Several new technologies have ...
2008 JUL 1 ... Cuturilo and colleagues published their study in Birth Defects Research Part a - Clinical and Molecular Teratology (Prenatal growth retardation, microcephaly, and eye coloboma in ... report.
"This finding has been included in London Winter-Baraitser Dysmorphology Database as a separate entity, but still has not been classified as a distinct syndrome. ...
2008 DEC 30 ... of premature demise."
Dias and colleagues published their study in Clinical Dysmorphology (Sudden death in spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification ...
