Facies
Research News and Information

Sunday, November 22, 2009

Effect of a syndromic diagnosis on mandibular size and sagittal position in Robin sequence.

30 Oct 2009 PURPOSE: Despite its pathogenic heterogeneity, it is often assumed that the small mandible in a neonate with Robin sequence will not grow normally. The purpose of this study was to determine mandibular length and position in patients with ... Read more...

Marathon of eponyms: 4 Down syndrome.

30 Aug 2009 The use of eponyms has long been contentious, but many remain in common use, as discussed elsewhere (Editorial: Oral Diseases. 2009: 15; 185). The use of eponyms in Diseases of the head and neck is mainly in specialties dealing with medically ... Read more...

Familial congenital unilateral cerebral ventriculomegaly: Delineation of a distinct genetic disorder.

30 Jul 2009 We identified two female siblings, derived from healthy first cousin parents, with congenital unilateral cerebral ventriculomegaly detected prenatally. Patient 1 underwent ventriculoperitoneal shunt operation at 1 week old, while Patient 2 was ... Read more...

Latest indexed articles for 'Facies'

These are the very latest articles for this heading:

• Effect of a syndromic diagnosis on mandibular size and sagittal position in Robin sequence. 30 Oct 2009
• Marathon of eponyms: 4 Down syndrome. 30 Aug 2009
• Keppen-Lubinsky syndrome: Expanding the phenotype. 30 Jul 2009
• Familial congenital unilateral cerebral ventriculomegaly: Delineation of a distinct genetic disorder. 30 Jul 2009
• Aicardi syndrome associated with hepatoblastoma and pulmonary sequestration. 30 Jul 2009
• Massive lymphedema, atrial septal defect, mild mental retardation: Possible case of Irons-Bianchi syndrome. 30 Jul 2009
• MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported. 7 Jul 2009
• Two siblings with microcephaly, growth retardation, cataract, hearing loss, and unusual appearance. 29 Jun 2009
• Erythematous plaques on the face: leonine facies. 29 Jun 2009
• Efficacy of methylphenidate treatment in Sotos syndrome. 7 Jun 2009
• Anomalous bilateral lateral rectus muscles and anterior polar cataract with dysmorphic features. 30 May 2009
• The ring 14 syndrome: clinical and molecular definition. 30 May 2009
• Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome. 30 May 2009
• [What do the face and hands reveal?] 19 May 2009
• Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence. 2 May 2009
• Kabuki make-up syndrome with unilateral renal agenesis. 29 Apr 2009
• Mental retardation, facial anomalies, brachydactyly, cerebral angiomas, femoral nucleus necrosis: a new entity or Hall-Riggs syndrome? 29 Apr 2009
• Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation. 11 Apr 2009
• Ocular abnormalities in Floating-Harbor syndrome. 30 Mar 2009
• Trisomy 12p and monosomy 4p: phenotype-genotype correlation. 30 Mar 2009

See a longer list of these articles.

Technical information about 'Facies'

Definition: The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)

Descriptor UI: D019066

Alternative terms: Facies;

Tree Number: C23.550.291.812; E01.370.600.230;

Online Note: use FACIAL EXPRESSION to search FACIES 1966-73

History Note: 96; was see under FACIAL EXPRESSION 1963-73

Technical Notes: do not confuse with FACIAL EXPRESSION, a psychol response; coord IM with assoc dis (IM)