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22 Possible Causes for Agenesis of Corpus Callosum, Failure to Thrive, Mild-Moderate Ventricular Dilatation

  • Sanjad-Sakati Syndrome

    All patients showed mild to severe mental retardation. CT brain showed mild to moderate ventricular dilation in six patients and intracranial calcification in one.[] We encountered a 2-year-old boy with hypocalcemia, failure to thrive and macrocytic anemia.[] Partial Agenesis of Corpus Callosum in Sanjad-Sakati Syndrome (p-ACC) To send this article to your Dropbox account, please select one or more formats and confirm that you[]

  • Schinzel-Giedion Syndrome

    ventricular dilatation ENDOCRINE FEATURES: Low parathyroid hormone; Congenital hypoparathyroidism IMMUNOLOGY: Normal cell mediated immunity; Recurrent bacterial infections[] […] to thrive.[] Agenesis of the corpus callosum and laryngeal stenosis were determined at autopsy.[]

  • Infantile Choroidocerebral Calcification Syndrome

    Accompanying ventricular dilatation often present.  MRI: T1 - isointense to grey matter, heterogenous T1 C - mild-moderate heterogeneous enhancement T2/FLAIR - typically[] […] to thrive Sensorineural hearing impairment SOURCES: MONDO SCTID ORPHANET MESH GARD OMIM More info about RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS Low[] Also seen in corpus callosum agenesis.[]

  • Costello Syndrome

    Mild-moderate aortic dilation not associated with bicuspid aortic valve is a recent cardiovascular finding [ Lin et al 2011 ] that occurs in approximately 5% of affected individuals[] We present a 7 months old child with severe failure to thrive whose "subtle" facial dysmorphism at the time eluded clinical recognition of the syndrome.[] Antenatal diagnosis Detection of hypertelorism, agenesis of the corpus callosum, and either CDH or omphalocele by prenatal imaging should raise suspicion of DBS.[]

  • Hypotonia-Failure to Thrive-Microcephaly Syndrome

    Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central[] […] rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.[] There was associated partial agenesis of the corpus callosum.[]

  • Alpers Syndrome

    Echocardiogram demonstrating left ventricular noncompaction, left ventricular dilation with LVIDD of 29 mm, poor contractility with LVFS of 13%, and moderate mitral regurgitation[] Mangalat, N, Tatevian, N, Bhattacharjee, MB & Rhoads, JM 2012, ' Alpers syndrome: An unusual etiology of failure to thrive ', Ultrastructural Pathology , vol. 36, no. 4, pp[] CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA Coloboma, downslanting palpebral fissures XLR IGBP1 #300472 COSTEFF SYNDROME Optic atrophy[]

  • Atrioventricular Septal Defect

    […] valve ring of 26mm, moderate left atrioventricular valve regurgitation, mild right atrioventricular valve regurgitation, with favorable clinical conditions despite a mild[] The main symptoms are feeding problems, failure to thrive and frequent pulmonary infections. The symptoms are similar to those caused by a large VSD.[] callosum agenesis Hydrops fetalis Echogenic bowel Trisomy 21 17 AVSD Single AV valve Tetralogy of Fallot Enlarged nuchal Fold Hydronephrosis Skeletal dysplasia Trisomy 21[]

  • Pseudo-Zellweger Syndrome

    MRI showed hydrocephalus with ventricular dilation and a mild delay in myelination.[] Common symptoms include hypoglycemia, hyperlactacidemia, severe generalized hypotonia, myopathy, cardiomyopathy, failure to thrive, cardiac failure, circulatory collapse,[] The most severe forms of these MCDs are associated with cerebellar hypoplasia and agenesis of the corpus callosum.[]

  • Cerebro-Oculo-Facio-Skeletal Syndrome Type 2

    Ventricular dilation was scored in the same way. Fig 1. Patient 6 at 6 years of age (CS I).[] Marked failure to thrive and repeated lower respiratory infections led to death within the first three years of life.[] Symptoms Neuro: Agenesis of corpus callosum; Hypotonia HEENT: Telecanthus; Short palpebral fissures; Small nose; Anteverted nares; Pierre Robin sequence; Abnormally shaped[]

  • Aplasia or Hypoplasia of Halluces

    Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central[] Failure to thrive is common and seizures have been reported. Males may have micropenis and hypospadias while females have been described with labial fusion.[] callosum , connecting the two sides of the brain, in Agenesis of the corpus callosum Cerebellum caused by mutation in the Reelin gene Tooth caused by oral pathology , such[]

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