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Frontonasal Dysgenesis, First Branchial Arch Anomalies, and Pericallosal Lipoma: A New Subtype of Frontonasal Dysgenesis
(WILEY-LISS, 2010)
We report on two unrelated Brazilian boys with craniofacial anomalies that involve the frontonasal process and the first branchial arch associated with pericallosal lipoma. To our knowledge this condition seems to have ...
Fenda cervical mediana
(2004-12-01)
The midline cervical cleft is an unusual congenital anomaly of the ventral neck and fewer than 100 cases have been reported overall and the first described by Bailey in 1924. This anomaly is report in association with ...
Clinical findings in patients with GLI2 mutations - phenotypic variability
(WILEY-BLACKWELLMALDEN, 2012)
Mutations in the human GLI2 gene were first reported in association with defective anterior pituitary formation, panhypopituitarism, and forebrain anomalies represented by typical holoprosencephaly (HPE) and holoprosencephaly-like ...
Fenda cervical mediana
(2004-12-01)
The midline cervical cleft is an unusual congenital anomaly of the ventral neck and fewer than 100 cases have been reported overall and the first described by Bailey in 1924. This anomaly is report in association with ...
Fenda cervical mediana
(2014)
Mandibulofacial Syndrome With Growth and Mental Retardation, Microcephaly, Ear Anomalies With Skin Tags, and Cleft Palate in a Mother and Her Son: Autosomal Dominant or X-Linked Syndrome?
(WILEY-LISS, 2009)
We report on a Brazilian mother and her son affected with mandibulofacial dysostosis, growth and mental retardation, microcephaly, first branchial arch anomalies, and cleft palate. To date only three males and one female, ...
Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature
(LIPPINCOTT WILLIAMS & WILKINS, 2009)
Oculoauriculovertebral spectrum (OAVS; OMIM 164210) is a complex condition characterized by defects of aural, oral, mandibular and vertebral development. The aetiology of this condition is likely to be heterogeneous; most ...
Pacinian corpuscles in a cervical chondrocutaneous remnant: A case report and update of pacinian corpuscles
(Lippincott Williams and Wilkins, 2016)
Hypercarbic cardiorespiratory reflexes in the facultative air-breathing fish jeju (Hoplerythrinus unitaeniatus): the role of branchial CO2 chemoreceptors
(Company of Biologists Ltd, 2010-08-15)
The aim of the present study was to determine the roles that externally versus internally oriented CO2/H+-sensitive chemoreceptors might play in promoting cardiorespiratory responses to environmental hypercarbia in the ...
Hypercarbic cardiorespiratory reflexes in the facultative air-breathing fish jeju (Hoplerythrinus unitaeniatus): the role of branchial CO2 chemoreceptors
(Company of Biologists Ltd, 2010-08-15)
The aim of the present study was to determine the roles that externally versus internally oriented CO2/H+-sensitive chemoreceptors might play in promoting cardiorespiratory responses to environmental hypercarbia in the ...