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464 Possible Causes for Agenesis of Corpus Callosum, Delayed Bone Age, Failure to Thrive

  • Sanjad-Sakati Syndrome

    We encountered a 2-year-old boy with hypocalcemia, failure to thrive and macrocytic anemia.[ncbi.nlm.nih.gov] […] recessive inheritance - Beaked nose - Deepset eyes / enophthalmos - Delayed bone age - Depressed nasal bridge - External ear anomalies - Failure to thrive / difficulties[csbg.cnb.csic.es] 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[cambridge.org]

  • Lenz-Majewski Syndrome

    The disorder is characterized by failure to thrive and mental retardation.[doi.org] Tooth development was delayed. The LENZ-MAJEWSKI SYNDROME 607 Fig. 1. (A) Patient age 51/2 months.[docksci.com] […] of corpus callosum 0001274 Bifid uvula 0000193 External genital hypoplasia Underdevelopment of external reproductive organs 0003241 High, narrow palate Narrow, high-arched[rarediseases.info.nih.gov]

  • Wolf-Hirschhorn Syndrome

    Accordingly, prenatal-onset growth retardation and failure to thrive have been found to result from haploinsufficiency for a 4p gene located between 0.4 and 1.3 Mb, whereas[ncbi.nlm.nih.gov] At autopsy, the fetus showed typical craniofacial dysmorphic signs of WHS, severe IUGR and delayed bone age.[ncbi.nlm.nih.gov] […] of the corpus callosum, bilateral renal hypoplasia, and two atrial septal defects.[ncbi.nlm.nih.gov]

  • Growth Failure

    Cranial defects may present with wide heads, flat noses, cleft lip/palate, hypertelorism, agenesis of the corpus callosum, hypopituitarism, posterior pituitary ectopia, basal[f1000research.com] Presentation on theme: "Faltering growth(failure to thrive)"— Presentation transcript: 1 Faltering growth(failure to thrive) refers to not only failure of growth(suboptimal[slideplayer.com] Acquired GHD presents with significant growth failure with maintenance of weight percentiles and delayed bone age.[ncbi.nlm.nih.gov]

  • Coffin-Lowry Syndrome

    Abstract We describe a boy with the syndrome of Coffin-Lowry whose CT-scan showed corpus callosum agenesis.[ncbi.nlm.nih.gov] Other findings can include failure to thrive, feeding difficulties, short stature, ophthalmologic abnormalities, microcephaly and hearing loss.[dnatesting.uchicago.edu] Patients are usually short with delayed bone age; joints are hyperextensible. The cognitive function of affected males is usually severely impaired.[genedx.com]

  • Marshall-Smith Syndrome

    It is hoped that the etiology of the syndrome will be discovered as more cases are recognized and reported by pediatricians caring for infants with failure to thrive, advanced[ncbi.nlm.nih.gov] We report a child of 3 years 9 months with the Marshall-Smith syndrome (MSS), characterised by the typical facial features, developmental delay, and advanced bone age.[ncbi.nlm.nih.gov] We describe a 5 year old patient with this rare syndrome, who has optic atrophy and agenesis of the corpus callosum, but has no respiratory problems so far.[ncbi.nlm.nih.gov]

  • Zellweger Syndrome

    A 7-month-old infant with failure to thrive and malnutrition developed a corneal ulcer. Fortified antibiotic eye drops were administered without improvement.[ncbi.nlm.nih.gov] CT/MRI agenesis of the corpus callosum MANAGEMENT: 1. Classic Zellweger syndrome 1.[pedbase.org] […] of the corpus callosum, subependymal germinolytic cysts, ventricular dilation, cerebellar vermis hypoplasia, leukodystrophy.[clinicaladvisor.com]

  • Dubowitz Syndrome

    Failure to Thrive : growth failure, or failure to thrive (FTT), is a descriptive term and not a specific diagnosis.[ric.edu] Analysis of approximately 30 cases reveals prevalence of growth failure and delayed bone age, mild microcephaly, broad forehead with sparse frontal hair, telecanthus, blepharophimosis[ncbi.nlm.nih.gov] Corpus Callosum 9 terms Aphalangia 26 terms Heart 28 terms seizures THIS SET IS OFTEN IN FOLDERS WITH... 23 terms Cataracts 8 terms Syndromes with Coloboma 25 terms Syndromes[quizlet.com]

  • Acrootoocular Syndrome

    […] to thrive ; Finger syndactyly ; Growth hormone deficiency ; Hearing impairment ; High palate ; Hypotelorism ; Increased number of teeth ; Kyphoscoliosis ; Low-set ears ;[mousephenotype.org] bone age Skeletal Feet: small feet widely spaced 1st-2nd toes zygodactyly short 3rd-4th toes protruding calcaneus Growth Weight: birthweight Abdomen Gastrointestinal: multiple[malacards.org] […] of the Corpus Callosum Agyria Aicardi syndrome Alexander syndrome Alper's syndrome Amelia Angelman syndrome Aniridia Anophthalmia/Microphthalmia 2.[de.slideshare.net]

  • Aarskog-Scott Syndrome

    […] to thrive Faltering weight Weight faltering [ more ] 0001508 Hyperextensibility of the finger joints Finger joint hyperextensibility Hyperextensible digits Hyperextensible[rarediseases.info.nih.gov] The main findings are asynchronic and delayed bone age, shortened long tubular bones with wide metaphyses, brachyphalangy, hypoplasia of the middle phalanges of the fifth[ncbi.nlm.nih.gov] […] of the Corpus Callosum Aicardi-Goutieres Syndrome Alagille Syndrome Alpha-Antitrypsin Alpha-Thalassemia Alpha-Thalassemia/Mental Retardation Syndrome Alport Syndrome Alstrom[hfi-ivf.com]

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