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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[] The aim of this study was to inventory pediatric otologic disorders in patients with TS at their first ENT consultation in our center.[] 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.[]

  • 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[] Additional unusual features were short neck and torticollis.[] Salih, Cranial Nerve Disorders, Textbook of Clinical Pediatrics, 10.1007/978-3-642-02202-9_369, (3457-3462), (2012).[]

  • Noonan Syndrome

    Apparent ocular hypertelorism and antimongoloid slant of the palpebral fissures, a deep philtrum, and mild retrognathia may also be present.[] 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.[] Noonan syndrome is an autosomal, dominantly inherited disease; it is physically characterized by short stature, short neck, webbed neck, abnormal auricles, high arched palate[]

  • 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[] Tachdjian's Pediatric Orthopaedics. 5th ed. Philadelphia, PA: Elsevier Saunders; 2014:chap 40. Horton WA, Hecht JT. Disorders involving transcription factors.[] […] is common Broad femoral head and short femoral neck Radius short or, rarely, absent Elongated second metacarpals Pseudoepiphyses of metacarpal bases Short hypoplastic distal[]

  • 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[] 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[] Pallister-Killian syndrome (PKS) is a rare multisystem disorder characterized by isochromosome 12p and tissue-limited mosaic tetrasomy 12p.[]

  • Rudiger's Syndrome

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

  • Aarskog Syndrome

    She exhibited ocular hypertelorism ( Figure-1 ), up-slanting palpebral fissures, malar hypoplasia, anteverted nostrils, slight retrognathia, clinodactyly of the fifth fingers[] Aarskog Syndrome Pediatric Database (PEDBASE), 2007 An x-linked recessive disorder characterized by short stature, and musculoskeletal and genital anomalies.[] 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[]

  • Trisomy 18

    Note microphthalmia, micrognathia/retrognathia, microstomia, low set/malformed ears, short sternum, and abnormal clenched fingers.[] neck, and wrist deformity.[] Respiratory rate assessment, neonate Venipuncture, pediatric the disorder, diagnosis, underlying cause, and treatment, including the poor prognosis for the infant and the[]

  • Simpson Dysmorphia Syndrome

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

  • Schinzel-Giedion Syndrome

    […] toes [ more ] 0001845 Pulmonary hypoplasia Small lung Underdeveloped lung [ more ] 0002089 Respiratory distress Breathing difficulties Difficulty breathing [ more ] 0002098 Retrognathia[] , and a short neck.[] […] and Rare Disorders, Medical University, Wroclaw, Poland. 9 Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences[]

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