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320 Possible Causes for Variable Dysmorphic Features

  • Klinefelter Syndrome

    […] in all three syndromes is variable and often subtle, although dysmorphic features are typically more distinct in 49,XXXXY compared with 48,XXYY and 48,XXXY.[] Parent of origin of extra chromosomes 50% Maternal 50% Paternal ( 43 ) 100% Paternal ( 44 – 47 ) 50% Maternal 50% Paternal ( 47 ) 100% Maternal ( 47 ) The degree of facial dysmorphism[]

  • Epilepsy

    features and behaviour problems involving social difficulties and maladaptive behaviours.[] Although haploinsufficiency of CHD2 is associated with a broad spectrum of neurodevelopmental disorders, we show that variability in the clinical expression of the phenotype[] […] mutations affecting CHD2 are associated with neurodevelopmental problems, which include delays in speech and/or motor development, seizures, ID or learning difficulties, minor dysmorphic[]

  • Atrial Septal Defect

    The phenotype of DS includes muscular hypotonia, low height, dysmorphic facial features, heart malformations, and cognitive deficits ( 4 ), with variable characteristics among[]

  • Ganglioglioma

    A, 4 magnification and B, 400 magnification, revealing reduced cellularity and large mature-appearing ganglion cells with variable dysmorphic features, including clumped Nissl[]

  • Autistic Disorder

    These patients do not share any morphological or dysmorphic feature apt to spur a specific diagnostic investigation.[] Children with dysmorphic features, congenital anomalies, mental retardation, or family members with developmental disorders are those most likely to benefit from extensive[] […] criteria (if applicable); study size (number of participants and controls) and rating methodology (whether raters were trained to recognize dysmorphic features, blinding[]

  • Ventricular Arrhythmia

    Patients with 15q24 microdeletion syndrome exhibit distinct dysmorphic features, microcephaly, variable developmental delay, multiples congenital anomalies while individuals[] Ventricular arrhythmias, periodic paralysis and dysmorphic features constitute the classic triad of ATS symptoms.[] Periodic paralysis and dysmorphic features. Periodic paralysis was present in 23 of 36 (64%) individuals with KNCJ2 mutations.[]

  • Patau Syndrome

    However, trisomy 13 mosaicism causes a variable phenotype ranging from complete trisomy 13 with neonatal death, to just a few dysmorphic features and prolonged survival [[]

  • Legius Syndrome

    Individuals with Legius syndrome typically have multiple cafe-au-lait spots, sometimes associated with skin fold freckling, variable dysmorphic features such as hypertelorism[] The cardinal features of NS are characteristic facies, short stature, congenital heart defects, skeletal abnormal-ities, cryptorchidism, and variable development delay [Allanson[] The facial dysmorphisms show considerable change with Key Words Facial characteristics Congenital heart defects Noonan syndrome RAS-MAPK pathway RASopathies Abstract Noonan[]

  • Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome

    dysmorphic features have been described in association with this syndrome including prominent occiput, posteriorly angulated and low set ears, flattened nasal bridge, up-slanting[] Additional features include severe failure to thrive, platelet dysfunction (which may be responsible for severe bleeding), facial dysmorphism (low set ears, lax skin, a high[] […] mediated by the soluble N-ethyl maleimide-sensitive factor attachment protein receptor or SNARE protein pathway in the epidermis might result in the ichthyosiform phenotype. 1 Variable[]

  • Growth Hormone Deficiency

    Haploinsufficiency of the SHOX gene causes short stature with highly variable clinical severity, ranging from isolated short stature without dysmorphic features to Léri-Weill[]

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