Results 281 to 290 of about 710,353 (381)

The remarkable convergence of skull shape in crocodilians and toothed whales

Proceedings of the Royal Society B: Biological Sciences, 2017
M. McCurry, A. Evans, E. Fitzgerald, Justin W. Adams, P. Clausen, C. McHenry   +5 more
semanticscholar   +1 more source

A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas, Susan Crawford, Tanya Bedard   +2 more
wiley   +1 more source

IgG4-related disease presenting as central skull base osteomyelitis with deep neck abscesses: A case report. [PDF]

Medicine (Baltimore)
Lee SH, Jaafar R, Misron NA, Yusof Z, Nik Othman NA.   +4 more
europepmc   +1 more source

Salvage Skull Base Reconstruction in the Endoscopic Era: The Vastus Lateralis Free Tissue Transfer

Skull Base, 2018
Stephen Y. Kang, A. Eskander, R. Hachem, E. Ozer, T. Teknos, M. Old, D. Prevedello, R. Carrau   +7 more
semanticscholar   +1 more source

Further Evidence That Chondrocalcinosis 1 (CCAL1) is a Confirmed Mendelian Phenotype With a Known Molecular Basis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Chondrocalcinosis (CCAL), also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), is a frequent multifactorial condition in the elderly, but there are two rare autosomal dominant Mendelian forms, CCAL1 (OMIM %600668) and CCAL2. Only three families with molecularly proven CCAL1 have been reported.
Anna‐Christina Pansa, Mareike Selig, Markus Wingendorf, Matthew A. Brown, Oliver Bartsch   +4 more
wiley   +1 more source

Direct delivery of MRI contrast through skull vessel/marrow pathways into the brain guided by microCT. [PDF]

Theranostics
Liu L, MacKinnon MJ, Atanasijevic T, Dodd S, Bouraoud N, Donahue D, Rallapalli H, Koretsky AP.   +7 more
europepmc   +1 more source

Open Approaches to the Anterior Skull Base in Children: Review of the Literature

Skull Base, 2018
O. Wasserzug, A. DeRowe, Barak Ringel, G. Fishman, D. Fliss   +4 more
semanticscholar   +1 more source

Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cousin syndrome is a rare skeletal dysplasia characterized by distinctive facial features, humeroradial synostosis, and hypoplasia of the ilia and scapula. Since the original description of the phenotype in two cases by Cousin in 1982, only three additional cases have been published.
Suzanne E. L. Detiger, Martijn V. Verhagen, Tuula Rinne, Hermine E. Veenstra‐Knol   +3 more
wiley   +1 more source

Developments in diagnostic and surgical techniques in children with sagittal suture craniosynostosis: a systematic review spanning the last 30 years. [PDF]

Orphanet J Rare Dis
Hermann J, Raak CK, Ostermann T, Scharbrodt W.   +3 more
europepmc   +1 more source

Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Poland Anomaly is a rare congenital disorder typically characterized by hypoplasia or agenesis of pectoral muscle with or without ipsilateral limb hypoplasia. The association of central nervous system malformation with Poland Anomaly has been rarely reported and includes craniofacial dysplasia, microcephaly, and Dandy‐Walker malformation ...
Alessandra Greta Grassi, Silvia Pontesilli, Laura Demelas, Francesca Vigliani, Massimo Agosti, Angelo Selicorni   +5 more
wiley   +1 more source