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Facies

Known as: Facies [Disease/Finding], appearances facial, facial appearance 
The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the… 
National Institutes of Health

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Acrocephalopolysyndactyly type 2Al Gazali Aziz Salem syndromeBoomerang dysplasiaBrooks-Wisniewski-Brown Syndrome
Face

Papers overview

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Highly Cited
2020
Highly Cited
2020
Pachydermoperiostosis
Description Pachydermoperiostosis is a rare developmental defect, first described by Friedreich in 1868 and recognized later in… 
1987
1987
Panel assessments of facial profile related to mandibular growth direction.
A panel of 20 individuals (five categories with four people in each) made independent aesthetic evaluations of the facial… 
1985
1985
Deletion of the distal long arm of chromosome 1: a definable syndrome.
Based on analysis of 15 cases, there appears to be a characteristic facial appearance and pattern of associated malformations… 
Review
1983
Review
1983
Sphenoethmoidal cephalocele with cleft palate: transpalatal versus transcranial repair. Report of two cases.
Two cases of sphenoethmoidal encephalocele with cleft palate are reported in detail. The encephaloceles had prolapsed into the… 
1983
1983
Partial trisomy 12q: a clinically recognisable syndrome. Genetic risks associated with translocations of chromosome 12q.
A newborn child with an unusual facial appearance and multiple abnormalities was found to be trisomic for a large part of 12q as… 
1983
1983
'Expanded' Prader-Willi syndrome in a boy with an unusual 15q chromosome deletion.
A male infant showed features of the Prader-Willi syndrome (including profound hypotonia, cryptorchidism, and mildly dysmorphic… 
1977
1977
Acrodysostosis coinciding with pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism
The diagnosis of acrodysostosis has been differentiated from that of pseudohypoparathyroidism or pseudo-pseudohypoparathyroidism… 
1970
1970
Deletion of short arm of no. 4 (4p-)--a detailed case report.
Deletion of the short arm of one of the B (4-5) group of chromosomes (usually No. 5) is most frequently associated with the… 
1957
1957
Long-standing Intrabronchial Foreign Bodies
The long-standing intrabronchial foreign body presents problems of diagnosis and treatment which are very different from those… 
Review
1932
Review
1932
BLOOD STUDIES IN INFANTS AND IN CHILDREN: I. ERYTHROBLASTIC ANEMIA; A CLINICAL AND PATHOLOGIC STUDY
Introduction Review of the Literature Clinical and Pathologic Aspects Age Incidence Symptoms Physical Findings Roentgen Findings… 
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