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11 Possible Causes for Abnormal Corticomedullary Differentiation, Broad-Based Gait

  • Ataxia Telangiectasia

    Cellular immunity can also be affected in A-T: abnormal development of the thymus, with absence of Hassall's corpuscles and corticomedullary differentiation, impaired delayed[err.ersjournals.com]

  • Hyperalaninemia

    Pretibial myxedema Pes cavus Intellectual disability, moderate Dry skin Hyperthyroidism Microcornea Esotropia Bilateral sensorineural hearing impairment Coxa valga Brittle hair Broad-based[mendelian.co] […] renal corticomedullary differentiation Cryptorchidism Coma Obesity X-linked recessive inheritance Hypogonadism Neonatal hypotonia Deeply set eye Respiratory distress Peripheral[mendelian.co] gait Coronal craniosynostosis Slow-growing hair Hand tremor Agitation Mild intrauterine growth retardation Pancreatic hypoplasia Delayed puberty Pachygyria Decreased body[mendelian.co]

  • Congenital Hypothyroidism without Goiter

    Smooth philtrum Short foot Abnormal hair quantity Generalized tonic-clonic seizures Postnatal microcephaly Choanal atresia Stereotypy Drooling Coarse hair Widely spaced teeth Broad-based[mendelian.co] differentiation Prominent forehead Hydroureter Thyroid agenesis Breathing dysregulation Strabismus Gastroesophageal reflux Small for gestational age Death in infancy Decreased[mendelian.co] gait Bilateral ptosis Myopathic facies 2-3 toe syndactyly Bruxism Congenital hypothyroidism Central nervous system degeneration Need help with a diagnosis?[mendelian.co]

  • Senior-Løken Syndrome

    Patients often develop ataxia with broad-based gait in the first years of independent ambulation.[ojrd.biomedcentral.com] Absence of renal corticomedullary differentiation Short proximal phalanx of finger Vascular ring Aplasia of the middle phalanx of the hand Pyelonephritis Frontal upsweep[mendelian.co] Abnormality of cardiovascular system morphology Cerebellar atrophy Atrial septal defect Ventricular septal defect Delayed speech and language development Aggressive behavior[mendelian.co]

  • Congenital Malformation Syndromes Involving Early Overgrowth

    […] stenosis Aplasia/Hypoplasia of the earlobes Breech presentation Abnormality of movement Atonic seizures Polyphagia Gastroesophageal reflux Autism EEG abnormality Incoordination Broad-based[mendelian.co] Figure 3 : Abdominal ultrasound scan at 6 months of age: nephromegaly with lobulated contoured kidneys and loss of corticomedullary differentiation.[atlasgeneticsoncology.org] gait Feeding difficulties in infancy Sporadic Albinism Wide mouth Neurological speech impairment Widely spaced teeth Hypoplasia of the maxilla Constipation Falls Infertility[mendelian.co]

  • Bangstad Syndrome

    Truncal obesity Congenital sensorineural hearing impairment Syndactyly High forehead Low anterior hairline Joint hypermobility Delayed gross motor development Stereotypy Broad-based[mendelian.co] Ultrasonography (upper image) shows normal appearance of the left kidney with regular corticomedullary differentiation and size.[soc-bdr.org] gait Tapered finger Thick vermilion border Thick eyebrow Thin vermilion border Deeply set eye Synophrys Hypermetropia Short philtrum Blepharophimosis Aggressive behavior[mendelian.co]

  • Bardet-Biedl Syndrome

    An abnormal gait was reported in 36 subjects (33%), which we found to be broad based in 22 patients examined.[jmg.bmj.com] Abnormalities were categorized as atrophic/scarring, echogenic or loss of corticomedullary differentiation, cystic or dysplastic, other developmental abnormality, or hydronephrosis[jasn.asnjournals.org] (A) Demonstrates the typical cystic dysplastic appearance associated with BBS: a small subcortical cyst, one large cyst, and loss of corticomedullary differentiation.[jasn.asnjournals.org]

  • Hypotrichosis - Lymphedema - Telangiectasia with Membranoproliferative Glomerulonephritis

    Heat intolerance Concave nasal ridge Delayed CNS myelination Bruxism Abnormality of the periventricular white matter Poor eye contact Impaired pain sensation Cellulitis Broad-based[mendelian.co] differentiation Deeply set eye Abnormality of the pinna Sporadic Neonatal hypotonia EEG abnormality Hyperactivity Abnormality of the genital system Oxycephaly Immunodeficiency[mendelian.co] gait Short chin Large hands Recurrent skin infections Episodic vomiting Prominent supraorbital ridges Recurrent upper respiratory tract infections Accelerated skeletal maturation[mendelian.co]

  • Oculotrichodysplasia

    […] eyelid morphology Hearing impairment Failure to thrive Hyperpigmented streaks Microretrognathia Long nose Bilateral talipes equinovarus Mania Myopathic facies Tibial bowing Broad-based[mendelian.co] […] of cardiovascular system morphology Dystonia Dysphagia Laryngeal stridor Ventriculomegaly Cleft palate Chorioretinal dystrophy Absence of renal corticomedullary differentiation[mendelian.co] gait Relative macrocephaly Dermal atrophy Hemiparesis Abnormality of the periventricular white matter Long eyelashes Dental crowding Intellectual disability, profound Short[mendelian.co]

  • Thyro-Cerebro-Renal Syndrome

    […] level Cerebellar vermis atrophy High pitched voice Slurred speech Cortical gyral simplification Long nose Truncal obesity Bilateral cryptorchidism Sensory axonal neuropathy Broad-based[mendelian.co] differentiation Abnormality of the umbilicus Dysplastic tricuspid valve Atresia of the external auditory canal Stenosis of the external auditory canal Anemia of inadequate[mendelian.co] gait Abnormality of the liver Abnormality of the foot Postural tremor Hypopigmented skin patches Multiple cafe-au-lait spots Absent radius Acute myeloid leukemia Irregular[mendelian.co]

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