Results 141 to 150 of about 1,837 (195)

Missense Variant Met119Val in <i>ACTB</i> in a Patient with Baraitser-Winter Syndrome Type 1 and Mild Intellectual Disability. [PDF]

open access: yesMol Syndromol
Zechi-Ceide RM   +6 more
europepmc   +1 more source

Transorbital neuroendoscopic approach for recurrent sinonasal inverted papilloma. [PDF]

open access: yesNeurosurg Focus Video
Crossley JR   +4 more
europepmc   +1 more source
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Ocular Manifestations of Frontonasal Dysplasia

Plastic and Reconstructive Surgery, 1994
The ophthalmologic findings associated with frontonasal dysplasia have not been defined previously in a large series of untreated children. We reviewed the ophthalmic manifestations of a series of patients with frontonasal dysplasia who were seen as part of their craniofacial evaluation.
J D, Roarty   +4 more
openaire   +2 more sources

Frontonasal dysplasia and its orodental aspects

Journal of Dentistry, 1973
Abstract The case is reported of a 4 1/2-year-old black female with macrocephaly and frontonasal dysplasia, characterized by ocular hypertelorism, a broad nasal bridge, a partially bifid nose, and some asymmetry of the facial bones. Orally, she showed a definite tendency toward mandibular retrognathism with a developing malocclusion.
M C, McCann, K E, McCann
openaire   +2 more sources

Frontonasal dysplasia in two successive generations

American Journal of Medical Genetics, 1993
AbstractFrontonasal dysplasia is thought to be a sporadic condition limited to the face and head. We describe a family from the Bahamas in which a mother, 2 of her children, and the mother's brother have variable manifestations of frontonassal dysplasia.
J S, Fryburg, J A, Persing, K Y, Lin
openaire   +2 more sources

Prenatal ultrasound diagnosis of frontonasal dysplasia

Prenatal Diagnosis, 2002
AbstractWe report a case of prenatal ultrasound diagnosis of frontonasal dysplasia. This represents a very rare disorder involving the face (hypertelorism, median cleft lip, absence of the nasal tip) and often the central nervous system (CNS) (cranium bifidum occultum, ethmoidal cephalocele, agenesis of the corpus callosum).
MARTINELLI, PASQUALE   +3 more
openaire   +3 more sources

Frontonasal Dysplasia in Yangon, Myanmar

Borneo Journal of Medical Sciences (BJMS), 2020
Frontonasal dysplasia (FND) is an uncommon congenital anomaly affecting the eyes, nose and forehead. In this case report, a baby of a 22-year-old mother was diagnosed with a midline facial cleft, bifid nose and hypertelorism during an ultrasound scan at 29th week of gestation.
Nang Kham Oo Leik   +3 more
openaire   +1 more source

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