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240 Possible Causes for prenatal and postnatal, Recurrent Bacterial Infection, Short Stature

  • Kenny-Caffey Syndrome Type 1

    Short and tall stature: a new paradigm emerges. Nat rev endocrinol. 2015;11:735–46.[] […] and postnatal growth retardation, short stature, cortical thickening and medullary stenosis of the long bones, absent diploic space in the skull bones, hypocalcemia due to[] It is similar to hypoparathyroidism-retardation-dysmorphism syndrome, with the additional findings of osteosclerosis and recurrent bacterial infections.[]

  • Sanjad-Sakati Syndrome

    Sanjad Sakati Syndrome /Dysmorphism/ short stature 30 Days of Hope: Day Nine #NICUphotography, #preemie, #NICU, #placentaprevia, #34weeks, #preemiesupportandawareness, #capturinghopes[] It is characterized by congenital hypoparathyroidism, severe prenatal and postnatal growth retardation, and distinct facial dysmorphism.[] A similar syndrome with the additional features of osteosclerosis and recurrent bacterial infections has been classified as autosomal recessive Kenny-Caffey syndrome (AR-KCS[]

  • Glycogen Storage Disease Type 3

    Some individuals have short stature and noncancerous (benign) tumors called adenomas in the liver.[] […] and postnatal history and distinctive physical appearance.[] GSD Ib has additional features of recurrent bacterial infections, oral and intestinal mucosal ulcers, and inflammatory bowel disease caused by impaired neutrophil and monocyte[]

  • Wolf-Hirschhorn Syndrome

    This case, together with a familial 4p deletion involving the distal 400 kb reported in normal women, may narrow the critical region for short stature on 4p to 360-760 kb.[] The major features of this disorder include a characteristic facial appearance known as the "Greek helmet," delayed growth and development; prenatally and postnatally, intellectual[] We should consider autoinflammatory disorders in the differential diagnosis of recurrent fever even if the patients have a congenital disease susceptible to bacterial infections[]

  • Barth Syndrome

    Barth syndrome is a severe inherited disorder, often fatal in childhood, characterized by cardiac and skeletal myopathy, short stature and neutropenia.[] Prenatal and postnatal testing for the presence of the TAZ gene is available at a few genetic laboratories.[] bacterial infection, hypoglycemia, lactic acidosis, growth, and pubertal delay, feeding problems (poor appetite), failure to thrive, episodic diarrhea, characteristic facies[]

  • LIG4 Syndrome

    dysplasia, Hydrops-ectopic calcification-moth-eaten skeletal dysplasia, Pelger-Huet anomaly, Reynolds syndrome LIFR Schwartz-Jampel type 2 syndrome, Stuve-Wiedemann dysplasia[] Major clinical features are severe prenatal and postnatal growth restriction (H and HC), immunodeficiency, pancytopenia and lympho-reticular malignancies.[] The disease is characterized by recurrent bacterial infections in affected males in the first two years of life.[]

  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone.[] […] and postnatal growth retardation and markedly increased spontaneous chromosome breaks in leucocytes.[] bacterial infections after age 6 mo.[]

  • Jacobsen Syndrome

    Features commonly seen in Jacobsen syndrome were short stature, mental retardation, congenital heart disease, cryptorchidism, strabismus, distal hypospadia glandis, and mild[] We report on four prenatally diagnosed patients with JBS with variable prenatal and postnatal phenotypes and 11q deletions of varying sizes.[] Our patient presented with recurrent bacterial and prolonged viral infections involving the respiratory system, as well as other classic features of the syndrome.[]

  • Gorlin-Chaudhry-Moss Syndrome

    Typical findings in the GCM syndrome are short stature, stocky body build, midface hypoplasia, small eyes, downslanting palpebral fissures, conductive hearing loss, highly[] OMIM : 58 Fontaine progeroid syndrome is characterized by prenatal and postnatal growth retardation, decreased subcutaneous fat tissue, sparse hair, triangular face, widely[] Clinical features: Partial oculocutaneous albinism, photosensitivity, grayish hair and skin, severe recurrent bacterial infections, bleeding diathesis and neurological manifestations[]

  • Osteogenesis Imperfecta

    Factors associated with health-related quality of life (HRQOL) in adults with short stature skeletal dysplasias. Qual Life Res 2017;26:1337-48. 17.[] Prenatal and postnatal cell transplantation has been investigated in preclinical and clinical studies of OI and suggests that this procedure is safe and has positive effects[] bacterial infections, or extramedullary plasmacytomas) Monoclonal gammopathy of undetermined significance (MGUS): Absence of symptoms M-protein 3 g/dL 10% plasma cells in[]

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