Results 111 to 120 of about 698 (166)
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Human facial dysostoses

Clinical Genetics, 2013
The human facial dysostoses can be subdivided into mandibulofacial dysostoses (MFDs) and acrofacial dysostoses (AFDs). The craniofacial phenotypes of the two groups of patients are similar. Both types are thought to be related to abnormal migration of neural crest cells to the pharyngeal arches and the face. The craniofacial anomalies shared by the two
Dagmar Wieczorek
exaly   +4 more sources

Acrofacial dysostoses

American Journal of Medical Genetics Part A, 1989
AbstractA female baby was born with phocomelia, bilateral cleft lip and palate, marked micrognathia, malar hypoplasia, absence of lower eyelids, and absence of external ears. Radiological examination showed hypoplastic pectoral and pelvic girdles, short humeri and femora, with absence of forearms and legs, and oligodactyly of upper limbs.Her mother has
M, Le Merrer   +3 more
exaly   +3 more sources

Facial dysostoses: Etiology, pathogenesis and management [PDF]

open access: yesAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 2013
AbstractApproximately 1% of all live births exhibit a minor or major congenital anomaly. Of these approximately one‐third display craniofacial abnormalities which are a significant cause of infant mortality and dramatically affect national health care budgets. To date, more than 700 distinct craniofacial syndromes have been described and in this review,
Paul A Trainor, Brian T Andrews
exaly   +3 more sources

Spondylocostal Dysostoses

2018
This chapter discusses spondylocostal dysostoses. The discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.
Jürgen W. Spranger   +5 more
exaly   +2 more sources

Akrofaziale Dysostose Typ Nager

Monatsschrift Kinderheilkunde, 2010
Die akrofaziale Dysostose Typ Nager ist im Neugeborenenalter aufgrund respiratorischer Probleme mit einer hohen Morbiditat und Mortalitat vergesellschaftet. Bei den therapeutischen Ansatzen sollte an eine Tracheotomie gedacht werden, um die respiratorische Situation fruhzeitig zu stabilisieren.
S. Seeliger   +3 more
openaire   +1 more source

Polytopic Dysostoses

2018
This chapter further discusses bone dysplasias and includes discussion on campomelic dysplasia, cousin dysplasia, spondylo-megaepiphyseal-metaphyseal dysplasia, cleidocranial dysplasia, Yunis-Varon syndrome, CDAGS, nail-patella syndrome, ischio-pubic-patellar dysplasia, ischiospinal dysostosis, and cerebro-costo-mandibular syndrome.
Jürgen W. Spranger   +5 more
openaire   +1 more source

Common Craniofacial Anomalies: The Facial Dysostoses

Plastic and Reconstructive Surgery, 2002
After studying this article, the participant should be able to: 1. Understand the etiology and pathogenesis of facial dysostosis syndromes. 2. Recognize and classify common facial dysostoses. 3. Understand the different management plans for the reconstruction of facial dysostoses.
Jeremy A, Hunt, P Craig, Hobar
exaly   +4 more sources

Die metaphys�re Dysostose

Archiv f�r Orthop�dische und Unfall-Chirurgie, 1968
Es wird uber zwei Falle einer metaphysaren Dysostose vom Typ Schmid berichtet. Die Abgrenzung des Krankheitsbildes hat vor allem von der genuinen Vitamin D-resistenten Rachitis sowie von renaltubularen Acidosen zu erfolgen. Die Behandlung besteht in der operativen Korrektur der Beindeformitaten, wobei jedoch der Wachstumsabschlus abgewartet werden ...
openaire   +1 more source

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