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

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

Albright's hereditary osteodystrophy is an inherited syndrome that encompasses endocrinologic anomaly of pseudohypoparathyroidim or less commonly, pseudo-pseudohypoparathyroidism and various physical stigmata such as mental retardation, short stature, skeletal anomaly of the hands, abnormal dentition, round facies, and osteoma cutis. Primary osteoma cutis in this syndrome presents at birth or in early infancy, preceding most of the other manifestations. This case is a typical presentation with osteoma cutis as the sole initial manifestation. Rather unfamiliar to dermatologists, Albright's hereditary osteodystrophy still deserves to be included in the differentials when an isolated case of osteoma cutis presents in a young child.
Child ; Christianity ; Dentition ; Facies ; Hand ; Humans ; Intellectual Disability ; Osteoma* ; Parturition ; Pseudopseudohypoparathyroidism

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

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

Williams syndrome is a progressive and multisystemic disorder. We experienced one case of Willams syndrome which was characterized by elfin facies, mental retardation, diffuse aortic hypoplasia, mitral regurgitation and chronic nonparoxysmal sinus tachycardia. The tachycardia has been managing with beta-blocker successfully. We presented a case of unusual form of Williams syndrome with a reivew of literatures.
Facies ; Intellectual Disability ; Mitral Valve Insufficiency ; Tachycardia ; Tachycardia, Sinus ; Williams Syndrome*