نتایج جستجو برای: philtrum
تعداد نتایج: 262 فیلتر نتایج به سال:
We report on the 10-year follow-up and clinical, cytogenetic, and molecular investigation of a girl admitted for evaluation because of speech delay, learning difficulties, aggressive behavior, and dysmorphic facial features that included high forehead, round face, epicanthic folds, low-set dysplastic ears, flat nasal bridge, long flat philtrum, thin upper lip, small mouth, and short neck. The a...
Cornelia de Lange Syndrome (CdLS) (also called Bushy Syndrome or Amsterdam dwarfism), is a genetic disorder that can lead to several alterations. This disease affects both physical and neuropsychiatric development. The various abnormalities include facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformation...
The present study aimed to describe the techniques that were used, and the results obtained, with the reverse Yu flap to reconstruct medium-sized upper lip defects following resection for adenoid cystic carcinoma (ACC). Data concerning the clinical and pathological characteristics of tumours, the size and location of the defects, surgical resection and the reconstructive procedure used were eva...
UNLABELLED In a previous study, a single cross-lip flap (Abbe flap) combined with Johanson's step technique for repair of defects of more than 2/3 of the lower lip was superior, in terms of aesthetic and functional outcome, compared with Bernard Webster-related techniques (cheek advancement). Herewith, a double cross-lip flap (Stein procedure) is proposed for repair of subtotal lower lip defect...
BACKGROUND Vascular elasticity is crucial for maintaining hemodynamics. Molecular mechanisms involved in human elastogenesis are incompletely understood. We describe a syndrome of lethal arteriopathy associated with a novel, identical mutation in the fibulin 4 gene (FBLN4) in a unique cohort of infants from South India. METHODS Clinical characteristics, cardiovascular findings, outcomes and m...
OBJECTIVE A genetic opinion is frequently requested in the assessment of a child with suspected fetal alcohol spectrum disorders (FASD). We studied the outcome of genetic assessment of 80 children referred to a regional genetics centre between 2004 and 2010 to identify the value of the genetic assessment in cases of suspected FASD. DESIGN Retrospective case series. PATIENTS 80 patients, age...
Few cases of de novo unbalanced X;autosome translocations associated with a normal or mild dysmorphic phenotype have been described. We report a 3-year-old dizygotic female twin with prenatally ascertained increased nuchal translucency. Prenatal chromosome studies revealed nearly complete trisomy 15 due to a de novo unbalanced translocation t(X;15)(q22;q11.2) confirmed postnatally. A mild pheno...
A 4-year old boy, the only son of healthy, nonconsanguineous parents without a significant family history, was referred to our clinic. Pregnancy had been complicated by missed abortion and decrease in fetal movements, and he was born at term with prolonged labor, resulting in perinatal distress. At birth, his weight was 4 kg (75th centile), height 51 cm (50th centile), head circumference 35 cm ...
The adverse effects of prenatal alcohol exposure constitute a continuum of disabilities (fetal alcohol spectrum disorders [FASD]). In 1996, the Institute of Medicine established diagnostic categories delineating the spectrum but not specifying clinical criteria by which diagnoses could be assigned. In 2005, the authors published practical guidelines operationalizing the Institute of Medicine ca...
C ornelia de Lange syndrome (CdLS, also called Brachmann de Lange syndrome; OMIM 122470) is characterised by preand postnatal growth retardation, microcephaly, severe mental retardation with speech delay, feeding problems, major malformations including limb defects, and characteristic facial features. Facial dysmorphism includes arched eyebrows, synophrys, short nose with anteverted nares, long...
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