Expanding the genetic and phenotypic spectrum of skeletal dysplasias [PDF]
, 2018 Skeletal dysplasias constitute a large and heterogeneous group of disorders, many causing disabilities with profound effects on the quality of life of the affected individuals and their families.
Hammarsjö, Anna
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Three-layered osteodural plasty for severe anterior skull base and facial injuries. Report of eleven cases [PDF]
, 1970 Background and purpose The upper cranial trauma of high force and wide area of application leads to fractures of calvaria, the skull base, and the viscerocranium.
Kamiński, Artur +2 more
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Orthopedic abnormalities in patients presenting with Congenital Zika syndrome: an analysis of 157 patients [PDF]
, 2023 Purpose: The study aimed to describe the characteristics of orthopedic examination in patients with microcephaly associated with congenital infection by the Zika virus, the epidemiological profile, the characteristics of orthopedic disorders, and their ...
Aires, Vinícius Gueiros Buenos +9 more
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Skeletal and cranio-facial signs in Gorlin syndrome from ancient Egypt to the modern age: sphenoid asymmetry in a patient with a novel PTCH1 mutation [PDF]
, 2014 Gorlin syndrome is an autosomal dominant disorder linked to PTCH1 mutation, identified by a collection of clinical and radiologic signs. We describe the case of a family in which father and son fulfilled clear cut diagnostic criteria for Gorlin syndrome ...
Boano, Rosa +10 more
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Prenatal Ultrasound and Genetic Diagnosis of EFTUD2 Haploinsufficiency in Two Fetuses: A Case Series
The Application of Clinical GeneticsAgata Kucińska,1 Lech Dudarewicz,1 Beata Anna Nowakowska,2 Maciej Geremek,2 Urszula Wysocka,1 Łukasz Przesór,1 Dobromiła Barańska,3 Piotr Grzelak,3 Agnieszka Gach1 1Department of Genetics, Polish Mother’s ...
Kucińska A +8 more
doaj
Shwachman Diamond Syndrome: an emergency challenge [PDF]
, 2007 Shwachman Diamond Syndrome is a rare congenital disorder characterized by pancreatic insufficiency, bone marrow dysfunction and skeletal abnormalities. No specific test is available for a definitive diagnosis for SDS. In the presence of clinical features
Antonio Ruggiero +6 more
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, 2000 Date of publication unknownIncludes bibliographical references.Date of publication unknownThis issue of eMedRef provides information to clinicians on the pathophysiology, diagnosis, and therapeutics of ...
Jain, Priyanka
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Agnatia-otocephaly complex in a low-resource setting and its implication for maternal and child health: a case report [PDF]
Agnatia-otocephaly complex is an extremely rare congenital fatal anomaly. This case is being reported to raise awareness of this condition and the need for sonographers to deliberately evaluate for this anomaly in patients with severe polyhydramnios in ...
Iweka, Reuben O. +3 more
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Labyrinthine Bifurcation of the Facial Nerve. [PDF]
Indian J Otolaryngol Head Neck Surg, 2023 Saro-Buendía M +5 more
europepmc +1 more source