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579 Possible Causes for Pediatric Disorder, 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] The aim of this study was to inventory pediatric otologic disorders in patients with TS at their first ENT consultation in our center.[ncbi.nlm.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]

  • Moebius Syndrome

    He was noted to have micrognathia, retrognathia, wide nasal bridge, low set ears, high arched palate, nonreducing bilateral talipes equinovarus and bilateral large angle esotropia[ncbi.nlm.nih.gov] Additional unusual features were short neck and torticollis.[doi.org] Salih, Cranial Nerve Disorders, Textbook of Clinical Pediatrics, 10.1007/978-3-642-02202-9_369, (3457-3462), (2012).[doi.org]

  • Noonan Syndrome

    Apparent ocular hypertelorism and antimongoloid slant of the palpebral fissures, a deep philtrum, and mild retrognathia may also be present.[touchendocrinology.com] NS is one of the RASopathies, which are a class of pediatric disorders associated with genes that are members of the mitogen-activated protein kinase (Ras/ MAPK ) pathway.[invitae.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]

  • Cleidocranial Dysplasia

    Parietal bossing 0000242 Persistent open anterior fontanelle 0004474 Short femoral neck Short neck of thighbone 0100864 Short middle phalanx of the 2nd finger Short middle[rarediseases.info.nih.gov] Tachdjian's Pediatric Orthopaedics. 5th ed. Philadelphia, PA: Elsevier Saunders; 2014:chap 40. Horton WA, Hecht JT. Disorders involving transcription factors.[nlm.nih.gov] […] is common Broad femoral head and short femoral neck Radius short or, rarely, absent Elongated second metacarpals Pseudoepiphyses of metacarpal bases Short hypoplastic distal[learningradiology.com]

  • Pallister-Killian Syndrome

    Table 2 Clinical features 1 Female 18y/22y Flat, broad nasal root, upslanting palpebral fissures, hypertelorism, coarse face, anteverted nostrils, retrognathia, small ears[molecularcytogenetics.biomedcentral.com] Here, we report on an unusual case of i(12p) in a 15-year-old boy presenting with mild mental retardation, minor facial features (long face, prognathism, short neck), normal[ncbi.nlm.nih.gov] Pallister-Killian syndrome (PKS) is a rare multisystem disorder characterized by isochromosome 12p and tissue-limited mosaic tetrasomy 12p.[ncbi.nlm.nih.gov]

  • Rudiger's Syndrome

    Pediatr. 79 (6): 977–81. doi : 10.1016/S0022-3476(71)80193-2. PMID 5132310. External links [ edit ][en.wikipedia.org] neck, and limb defects affecting the central ray of the hands and feet, compatible with ectrodactyly.[redalyc.org] […] developmental failure with coarse facial features, distal limb hypoplasia, thickened palmar creases, bifid uvula, and ureteral stenosis: a previously unidentified familial disorder[en.wikipedia.org]

  • Aarskog Syndrome

    She exhibited ocular hypertelorism ( Figure-1 ), up-slanting palpebral fissures, malar hypoplasia, anteverted nostrils, slight retrognathia, clinodactyly of the fifth fingers[scielo.br] Aarskog Syndrome Pediatric Database (PEDBASE), 2007 An x-linked recessive disorder characterized by short stature, and musculoskeletal and genital anomalies.[ibis-birthdefects.org] Partial expression of the syndrome was confirmed in two of the three examined obligate female heterozygotes, who had short stature, small hands and feet, short neck, and a[ncbi.nlm.nih.gov]

  • 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] Respiratory rate assessment, neonate Venipuncture, pediatric the disorder, diagnosis, underlying cause, and treatment, including the poor prognosis for the infant and the[quizlet.com]

  • Simpson Dysmorphia Syndrome

    Commonly seen anomalies in SGBS which can lead to airway problems include macroglossia, cleft lip and palate, retrognathia and short neck.[oatext.com] Anticipating a difficult airway due to macroglossia and a short neck, sevoflurane-fentanyl anesthesia without a neuromuscular blocker was planned.[file.scirp.org] Turk J Pediatr 2010;52: 525-528.[turkishjournalpediatrics.org]

  • 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] […] and Rare Disorders, Medical University, Wroclaw, Poland. 9 Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences[ncbi.nlm.nih.gov]

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