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, dysmorphia
n. dismorfismo, malformación anatómica.
References in periodicals archive ?
CGH Microarray Consumables are used within the Medical Genetics Department of the Health Board for CGH Array analysis and investigation in patients with developmental delay (DD) / learning difficulties (LD) / autistic spectrum disorder (ASD) /multiple congenital anomalies (MCA) / dysmorphism /intrauterine growth retardation (IUGR) and cases otherwise defined by Clinical Geneticists.
On examination, she had no dysmorphism, was pale, febrile with no icterus, petechiae, or bruises.
A 19-years-old male who attends a medical genetics consultation at Hospital Universitario del Valle, was referred by a clinical neurologist, with a diagnosis of ID of unclear origin, possibly genetic due to the presence of facial dysmorphism.
Repair of bilateral abdominoscrotal hydrocele with testicular dysmorphism using laparoscopic extracorporeal ligation of the internal inguinal ring and orchiopexy.
Keywords: facial dysmorphism, labio-schisis, diagnosis, feature extraction, landmarking, clustering, D-MST, artificial intelligence, decision support
Common phenotypic features described for partial trisomy 13q are craniofacial dysmorphism, highly arched palate, short neck, hemangioma, hexadactyly, urinary tract/kidney anomalies, umbilical/inguinal hernia, intrauterine growth retardation, and oligohydramnios.
These include facial dysmorphism, central nervous system abnormalities in 50% of cases, cardiac defects in 31% of cases on second-trimester ultrasound, limb abnormalities and genito-urinary and gastrointestinal defects.
Noonan syndrome (NS, OMIM 163950) is an autosomal dominant multisystem disorder characterized by a wide phenotypic spectrum including distinctive facial dysmorphism, postnatal growth retardation, short stature, ectodermal and skeletal defects, congenital heart anomalies, renal anomalies, lymphatic malformations, bleeding difficulties and variable cognitive deficits [8-10].
Dysphagia, cranial dysmorphism, extremity anomalies, hypoplasia of the pectoralis minor muscle (Poland anomaly) and mental deficiency may also be observed in association (1).
It comprises a number of birth defects including facial dysmorphism, mental retardation, neurobehavioural disorders, heart defects, abdominal wall defects and limb abnormalities.
Type II variant is associated with arrhythmia and type D brachydactyly, bifid thumbs, bowing of the radius, short arms, scoliosis, and facial dysmorphism.