Presentation
Echocardiograms, which are a type of ultrasound, can be used to generate images of the heart to detect any cardiac abnormalities that may be present. [rarediseases.org]
Seventh-degree consanguinity was present between her parents. Chromosomal analysis was performed at genetic analysis, but the de novo mutations were not assessed. [arsiv.dusunenadamdergisi.org]
These mutations are somatic, which means they are acquired during a person's lifetime and are present only in tumor cells. [encyclopedia.pub]
Detailed clinical information of the four patients is presented in Additional file 1. [bmcgenomics.biomedcentral.com]
Conclusions Using multivariate genomic analyses, the present study uncovers shared and specific genetic variants associated with ASD and ADHD. [cra-rhone-alpes.org]
Entire Body System
- Developmental Delay
Disruption of the ARID1B and ADAMTS6 loci due to a t(5;6)(q12.3;q25.3) in a patient with developmental delay. Malli T, Duba HC, Erdel M, Marschon R, Kranewitter W, Deutschbauer S, Kralik J, Diel E, Güenther B, Mueller D, Webersinke G. [pubmed.ncbi.nlm.nih.gov]
The inclusion criteria were individuals with height below 3rd percentile without a clinical diagnosis of intellectual disability or developmental delay. [bmcgenomics.biomedcentral.com]
Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss. Eur J Hum Genet. 2009;17:573–81. [ncbi.nlm.nih.gov]
- Weight Gain
Early in life, infants with CSS typically experience feeding difficulties, vomiting, slow growth and weight gain (failure to thrive) which may have begun while the infant was still in the womb (intrauterine growth retardation), and frequent respiratory [rarediseases.org]
Gastrointestinal
- Failure to Thrive
Early in life, infants with CSS typically experience feeding difficulties, vomiting, slow growth and weight gain (failure to thrive) which may have begun while the infant was still in the womb (intrauterine growth retardation), and frequent respiratory [rarediseases.org]
Eyes
- Visual Impairment
The patient’s threshold of hearing was within normal ranges, while ophthalmological examination revealed no visual impairment, and neurological examination showed no additional neurological disease. [arsiv.dusunenadamdergisi.org]
Ears
- Hearing Impairment
Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. [uniprot.org]
Musculoskeletal
- Small Head
Craniofacial malformations may include an abnormally small head (microcephaly) or large head (macrocephaly); a wide nose with a low nasal bridge; a wide mouth with thick, prominent lips; thick eyebrows and eyelashes or excess hair growth in unusual places [rarediseases.org]
Skin
- Hypertrichosis
Facial hypertrichosis or hirsutism was found in 8/11. Complete or partial AgCC had been diagnosed on brain MRI in 6/11 patients during the prenatal period and confirmed on postnatal MRI in all of them. [academic.oup.com]
He showed thick eyebrows, long eyelashes, and hypertrichosis. Morphological abnormalities were not observed in his fingers. [nature.com]
Additional features may include thick eyebrows, long eyelashes, and generalized excessive hair growth (hypertrichosis) with the exception of the scalp hair, which tends to be relatively sparse (scalp hypotrichosis). [rarediseases.org]
[…] causative for Coffin-Siris syndrome, a rare genetic condition characterized by growth deficiency, developmental delay, severe speech impairment, intellectual disability, and specific physical features including microcephaly, coarse facial features, hypertrichosis [bmcgenomics.biomedcentral.com]
Coffin-Siris syndrome is a genetic condition characterized by mental retardation, a coarse facial appearance, hirsutism/hypertrichosis or skin with sparse hair, distal phalanx aplasia or hypoplasia, and fifth-finger and nail abnormalities. [arsiv.dusunenadamdergisi.org]
- Hirsutism
Facial hypertrichosis or hirsutism was found in 8/11. Complete or partial AgCC had been diagnosed on brain MRI in 6/11 patients during the prenatal period and confirmed on postnatal MRI in all of them. [academic.oup.com]
Coffin-Siris syndrome is a genetic condition characterized by mental retardation, a coarse facial appearance, hirsutism/hypertrichosis or skin with sparse hair, distal phalanx aplasia or hypoplasia, and fifth-finger and nail abnormalities. [arsiv.dusunenadamdergisi.org]
- Absent Nails
In addition, affected infants and children may have short fifth fingers ("pinkies") and toes with underdeveloped (hypoplastic) or absent nails; other malformations of the fingers and toes; and eye abnormalities. [rarediseases.org]
- Sparse Hair
Coffin-Siris syndrome is a genetic condition characterized by mental retardation, a coarse facial appearance, hirsutism/hypertrichosis or skin with sparse hair, distal phalanx aplasia or hypoplasia, and fifth-finger and nail abnormalities. [arsiv.dusunenadamdergisi.org]
- Sparse Hair
Coffin-Siris syndrome is a genetic condition characterized by mental retardation, a coarse facial appearance, hirsutism/hypertrichosis or skin with sparse hair, distal phalanx aplasia or hypoplasia, and fifth-finger and nail abnormalities. [arsiv.dusunenadamdergisi.org]
Face, Head & Neck
- Coarse Face
face/abnormal head shape (16/18), low hair line (9/11), and spinal/skeletal anomalies (10/12). [bmcgenomics.biomedcentral.com]
Workup
Clinical Testing and Workup If indicated, further examinations and specialized imaging techniques are recommended to establish the extent of the disorder. [rarediseases.org]
Treatment
Cisplatin is one of the chemotherapies used for cancer treatment. [addon.life]
Standard Therapies Treatment The treatment of CSS is directed toward the specific features of each individual. [rarediseases.org]
This exon 18 sequence directly following exon 16 was decreased after treatment with CHX. The c.4282 T signal also increased with CHX treatment. [nature.com]
Practice parameter for the assessment and treatment of children and adolescents with autism spectrum disorder. J Am Acad Child Adolesc Psychiatry 2014; 53:237-257. [arsiv.dusunenadamdergisi.org]
Further functional investigation of genes mapped to those shared variants may help identify pathophysiological pathways and new targets for treatment. Lien vers le texte intégral (Open Access ou abonnement) 4. [cra-rhone-alpes.org]
Prognosis
The finding of the aetiology of a prenatally diagnosed ACC and the establishment of the foetal intellectual prognosis have major impact on the parental decision to continue or terminate the pregnancy. [academic.oup.com]
Background Since the 1990s, increasing research has been devoted to the identification of biomarkers for autism to help attain more objective diagnosis; enable early prediction of prognosis; and guide individualized intervention options. [cra-rhone-alpes.org]
Etiology
Many significant factors play a role in the etiology of autism, including genetic factors (2). [arsiv.dusunenadamdergisi.org]
In fact, it has been shown that parental conditions and in utero and perinatal factors may contribute to ASD etiology. [mdpi.com]
However, the molecular genetic etiology of chronic courses of social wariness and preference for solitude, two dimensions of social withdrawal, remains undocumented. [cra-rhone-alpes.org]
Epidemiology
FSRG-2020-0014 “Genomics of Arctic: epidemiology, hereditary and pathology”). [nature.com]
Pathophysiology
Further functional investigation of genes mapped to those shared variants may help identify pathophysiological pathways and new targets for treatment. Lien vers le texte intégral (Open Access ou abonnement) 4. [cra-rhone-alpes.org]
Prevention
During infancy, treatment may also require measures to help prevent or aggressively treat respiratory infections. Early intervention may be important in ensuring that affected children reach their potential. [rarediseases.org]