No abstract available.
Facies*

No abstract available.
Child* ; Facies* ; Humans

Weaver syndrome is a very rare overgrowth syndrome with accelerated skeletal maturation, unusual facies and clinodactyly. We experienced an extremely rare case of Weaver syndrome in Korea. The clinical manifestations were macrocephaly, unusal facies, simian crease, clinodactyly, decreased muscle tone, accelerated bone age and congenital heart diseases. We report this with a brief review of related literature.
Facies ; Heart Diseases ; Korea ; Macrocephaly ; Muscle Hypotonia

OBJECTIVE: To analyze the clinical and genetic characteristics of a child with clinical manifestations of hypoplasia, epilepsy and abnormal face. METHODS: The clinical data of the child were collected. The peripheral blood samples of the patient and his parents were extracted for high-throughput sequencing, and Sanger sequencing verification and bioinformatics analysis were performed to detect suspected pathogenic variants. RESULTS: The clinical manifestations of the child were overall developmental backwardness, seizures, autism, and special facial appearance. High throughput sequencing showed that there was a heterozygous mutation of exon 11: c.1920_c.1927delCCTCTACC (p.Ser641Rfs*31) of the DYRK1A gene. The same variant was found in neither of her parents, suggesting that it has a denovo origin. CONCLUSION The exon11: c.1920_c.1927delCCTCTACC (p.Ser641Rfs*31) mutation in DYRK1A gene was the genetic etiology of the case, which enriches the pathogenic gene spectrum of DYRK1A and provides the basis for clinical diagnosis and genetic counseling.
Arthrogryposis ; Child ; Facies ; Female ; Heterozygote ; Humans ; Intellectual Disability/genetics* ; Mutation

Asymmetric crying facies are caused by unilateral weakness of the depressor muscles of lower lip, which is most obvious during crying and is associated with other congenital anomalies, especially congenital heart disease. This sign results from partial paralysis of facial nerve, specifically the ramus marginalis mandibulae, or congenital agenesis of the depressor anguli oris muscle (DAOM). We report two patients with congenital hypoplasia or absence of DAOM proved by electromyography, who have not cardiac anomalies.
Crying* ; Electromyography ; Facial Nerve ; Facies* ; Heart Defects, Congenital ; Humans ; Lip ; Muscles ; Paralysis

The Kniest syndrome is characterized by disproportionate dwarfism and Kyphoscoliosis which may be associated with flat facies with prominent eyes, cleft palate, hearing loss, myopia and limited joint motion. The skeletal abnormalities are recognizable at birth with shortening and deformity of the extremities and stiff joints. Marked lumbar lordosis and kyphoscoliosis develop in childhood, resulting in disproportionate shortening of the trunk. We experienced a case of kniest syndrome, confirmed by clinical features, radiological features, and histological examination of cartilage. A brief review of the related literature is presented.
Animals ; Cartilage ; Cleft Palate ; Congenital Abnormalities ; Dwarfism ; Extremities ; Facies ; Hearing Loss ; Joints ; Lordosis ; Myopia ; Parturition

It is. commonly assumed that nasorespiratory function can exert a dramatic effect upon the development of the dentofacial complex. Specially, it has been stated that chronic nasal obstruction leads to mouth breathing, which causes altered tongue and mandibular positions. If this occurs during a period of active growth, :the .outcome is development of the "adenoid facies". Such patients characteristically: manifest a vertically long lower third facial height, narrow alar bases, lip incompetence, a long and narrow maxillary arch and a greater than normal mandibular plane angle. But several authors have reported that so-called adenoid facies is not always associated with adenoids and mouth breathing, and that a particular type of dentition is not alwarys found in mouth breathers with or without adenoids. Some authors have believed adenoids lead to mouth breathing in cases with particular facial characteristics and types of dentition. We assumed that the ability to adapt to individual's neuromuscular complex is various. So, we compared the difference of influence of mouth breathing between childrens who have different facial types. This study included 60 patients and they were divided into three groups by Rickett's facial type. Their dentition and tongue position were compared. The results are as follows. 1. There is a significant difference in arch width of upper molars between different facial types. Especially dolichofacial type patients have narrowest arch width. 2. There is a significant difference in tongue position between different facial types. Especially dolichofacial type patients have lowest positioned tongue.
Adenoids ; Child ; Dentition* ; Facies ; Humans ; Lip ; Molar ; Mouth ; Mouth Breathing ; Nasal Obstruction ; Respiration* ; Tongue

The untreated leprosy skin takes on a waxy appearance & feel full. Thickening is most marked over the face, which starts to devolp into folds, hanging down to produce the classical lion-like facies. The deep folds in disease state change to the numerous compacted shallow wrinkle with less elasticity of the skin. To correct these wrinkles of the patients healed from the leprosy, we tried the stone-VK formula application to the 14 patients, who are men 10 & women 4 in the age distribution of 55~78 years old. The use of the phenol & croton oil chemical peeling this method is more effective than other chemical & conventional surgical method to remove facial wrinkle. We need more experience of this peeling. In preliminaxy report, our superior results in removing facial wrinkle is presented.
Age Distribution ; Croton Oil ; Elasticity ; Facies ; Female ; Humans ; Leprosy* ; Male ; Phenol* ; Skin

Hyperfamiliarity for unknown faces (HFUF) is a rare disorder in which unfamiliar faces seem familiar. We report one case of HFUF syndrome. A 34-year-old woman was admitted as encephalitis with seizure. She repeatedly reported to her husband that all faces around her looked familiar. Our case supports the studies that show a differential contribution of two hemispheres in face recognition. Here we report this case for the first time in Korea.
Adult ; Anorexia ; Cachexia ; Encephalitis ; Eye Abnormalities ; Facies ; Female ; Humans ; Korea ; Seizures ; Skin Diseases ; Spouses

PURPOSE:Noonan syndrome(NS) is characterized by short stature, congenital heart disease, and typical facies. Recombinant human growth hormone(GH) has been reported to improve growth rate in a similar fashion to that seen in Turner syndrome. We investigated the clinical characteristics and growth reponses to GH therapy in children with NS. METHODS:The cases of sixty seven patients with NS were reviewed retrospectively. Ten of the 65 patients were assessed height, weight and pubertal stage every 3 months during GH therapy. RESULTS:Webbed neck(70%), delayed development(59.7%), low set posterior hairline(56.7%), eye abnormalities(56.7%) and mental retardation(55.2%) were the leading clinical characteristics. Short stature below the 3rd percentile was presented in 73.8 %. Growth patterns in NS children were variable and the evaluation of their growth must be individualized. The increments of height SDS were significant in children with GH therapy(height SDS:from -2.8+/-.6 to -2.3+/-.9, growth velocity:from 4.4+/-.8 cm to 9.2+/-.9 cm during first year, and 6.1+/-.1 cm during second year) (P<0.05). CONCLUSION: This study characterized the clinical profiles in Korean children with NS, which should be further extended with more children with NS. Additionally, the significant increase in final adult height after GH therapy in children with NS should be observed.
Adult ; Child* ; Facies ; Heart Defects, Congenital ; Humans ; Noonan Syndrome* ; Retrospective Studies ; Turner Syndrome