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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.[springermedizin.de] […] 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[malacards.org] It is similar to hypoparathyroidism-retardation-dysmorphism syndrome, with the additional findings of osteosclerosis and recurrent bacterial infections.[medical-dictionary.thefreedictionary.com]

  • Sanjad-Sakati Syndrome

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

  • Glycogen Storage Disease Type 3

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

  • 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.[ncbi.nlm.nih.gov] The major features of this disorder include a characteristic facial appearance known as the "Greek helmet," delayed growth and development; prenatally and postnatally, intellectual[ncbi.nlm.nih.gov] We should consider autoinflammatory disorders in the differential diagnosis of recurrent fever even if the patients have a congenital disease susceptible to bacterial infections[scitechnol.com]

  • Barth Syndrome

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

  • LIG4 Syndrome

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

  • 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.[mendelian.co] […] and postnatal growth retardation and markedly increased spontaneous chromosome breaks in leucocytes.[jmg.bmj.com] bacterial infections after age 6 mo.[brainscape.com]

  • Jacobsen Syndrome

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

  • 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[ncbi.nlm.nih.gov] OMIM : 58 Fontaine progeroid syndrome is characterized by prenatal and postnatal growth retardation, decreased subcutaneous fat tissue, sparse hair, triangular face, widely[malacards.org] Clinical features: Partial oculocutaneous albinism, photosensitivity, grayish hair and skin, severe recurrent bacterial infections, bleeding diathesis and neurological manifestations[vivavoceoralmedicineradiology.com]

  • 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.[doi.org] 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[ncbi.nlm.nih.gov] bacterial infections, or extramedullary plasmacytomas) Monoclonal gammopathy of undetermined significance (MGUS): Absence of symptoms M-protein 3 g/dL 10% plasma cells in[en.wikibooks.org]

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