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577 Possible Causes for Congenital Heart Disease, Retrognathia, Short Neck

  • Turner Syndrome

    [ more ] 0000347 Neck pterygia 0009759 Obesity Having too much body fat 0001513 Primary amenorrhea 0000786 Recurrent otitis media Recurrent middle ear infection 0000403 Retrognathia[rarediseases.info.nih.gov] A 16-year-old girl was referred to our hospital with chief complaint of short stature. She presented with round chubby facies, short neck, obesity and short stature.[ncbi.nlm.nih.gov] KEYWORDS: Turner syndrome; congenital heart disease; outcomes; trisomy 21[ncbi.nlm.nih.gov]

  • Noonan Syndrome

    Apparent ocular hypertelorism and antimongoloid slant of the palpebral fissures, a deep philtrum, and mild retrognathia may also be present.[touchendocrinology.com] Noonan syndrome is an autosomal, dominantly inherited disease; it is physically characterized by short stature, short neck, webbed neck, abnormal auricles, high arched palate[ncbi.nlm.nih.gov] The challenges faced during anesthetic management of patients with NS could be due to congenital heart diseases, hemostatic disorders, and airway anomalies.[ncbi.nlm.nih.gov]

  • Crouzon Syndrome

    […] intubated the trachea using airway exchange catheter inserted through LMA Fastrach. [10] Our patient had history and features suggestive of difficult airway (high-arched palate, retrognathia[aeronline.org] Patient had short neck and difficulty in turning his neck on both right and left sides.[omicsonline.org] Child had episodes of cyanosis while crying for which he was evaluated by cardiologist and congenital cyanotic heart diseases were ruled out.[jnaccjournal.org]

  • Jacobsen Syndrome

    Anesthetic issues related to the care of patients with JS concern airway management secondary to short neck, abnormal mouth shape and micrognathia/retrognathia, a high incidence[ncbi.nlm.nih.gov] A woman with psychomotor developmental delay, congenital glaucoma, and distinctive facial features, and a short neck was diagnosed with Jacobsen syndrome (JBS) at age 40 years[ncbi.nlm.nih.gov] heart disease.[ncbi.nlm.nih.gov]

  • Goldberg-Shprintzen Syndrome

    […] prominent forehead Ocular proptosis Widely spaced eyes Downslanted palpebral fissures Malar flattening High narrow palate with prominent palatine ridges Micrognathia and/or retrognathia[ncbi.nlm.nih.gov] Additional dysmorphic features may include maxillary hypoplasia, hypodontia, high arched palate, short neck, small hands, brachydactyly, fifth finger clinodactyly, fetal finger[orpha.net] A 5-year-old girl with Hirschsprung disease, unusual facial appearance, psychomotor retardation, epilepsy, and congenital heart disease is reported.[ncbi.nlm.nih.gov]

  • Robinow-Like Syndrome

    […] ears Low set ears Lowset ears [ more ] 0000369 Nail dysplasia Atypical nail growth 0002164 Narrow palate Narrow roof of mouth 0000189 Oral cleft Cleft of the mouth 0000202 Retrognathia[rarediseases.info.nih.gov] Approximately 15% of patients who have congenital heart disease.[health-and-beaty.blogspot.com] Congenital heart disease and Robinow syndrome. Clin Dysmorphol. 1993;2:208-10. Balci S, et al.[rarediseases.org]

  • Trisomy 18

    Note microphthalmia, micrognathia/retrognathia, microstomia, low set/malformed ears, short sternum, and abnormal clenched fingers.[web.archive.org] neck, and wrist deformity.[ncbi.nlm.nih.gov] A prenatal diagnosis of ductal-dependent, complex congenital heart disease was made in a fetus with trisomy 18.[ncbi.nlm.nih.gov]

  • Short stature-Valvular Heart Disease-Characteristic Facies Syndrome

    […] phalanges of the hand Pneumothorax Hand clenching Broad columella Biventricular hypertrophy Poroma Hypoplastic heart Heterogeneous Alopecia Decreased adipose tissue around neck Retrognathia[mendelian.co] The neck is short in nearly half of the patients. The facial appearance may change with age being more triangular in adolescents and adults.[ojrd.biomedcentral.com] Diagnosis and Management of Adult Congenital Heart Disease, by Drs.[books.google.com]

  • Schinzel-Giedion Syndrome

    […] toes [ more ] 0001845 Pulmonary hypoplasia Small lung Underdeveloped lung [ more ] 0002089 Respiratory distress Breathing difficulties Difficulty breathing [ more ] 0002098 Retrognathia[rarediseases.info.nih.gov] , and a short neck.[ncbi.nlm.nih.gov] Cardiac: About 1/3 of the patients have congenital heart disease, most commonly atrial septal defect.[atlasgeneticsoncology.org]

  • Autosomal-Recessive Robinow Syndrome

    Midface retrusion ; Missing ribs ; Nail dysplasia ; Nevus flammeus ; Pectus excavatum ; Posteriorly rotated ears ; Proptosis ; Radial deviation of finger ; Renal duplication ; Retrognathia[mousephenotype.org] heart disease, genital hypoplasia, and dysmorphic facial features with gum hypertrophy.[link.springer.com] […] thick / curved lashes / trichomegaly / polytrichia - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly - Micrognathia / retrognathia[csbg.cnb.csic.es]

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