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5,725 Possible Causes for Abnormalities Multiple

  • Osteoporosis

    Tetrasomy 20p is a very rare chromosome abnormality, with only two single cases previously reported in the literature, both fetuses with multiple congenital anomalies, osteopenia[] Multiple fractures of the spine can cause loss of height and significant spinal deformities and patients may develop marked abnormal curvature of the spine (kyphoscoliosis[] Abnormal stress on the spinal muscles and ligaments may cause chronic, dull, aching pain, particularly in the lower back.[]

  • Patau Syndrome

    Wagner: Multiple congenital anomaly caused by an extra autosome. The Lancet, London, 1960, I: 790. What is an eponym?[] Morbidity and mortality occur because of multiple congenital anomalies such as heart defects, neural tube defects, and CNS abnormalities.[] congenital anomalies involving virtually every organ system [2] .[]

  • Trisomy 9

    We present the case of a child born with mosaic trisomy 9 and multiple congenital anomalies. Her trachea displays segmental abnormalities that suggest tissue mosaicism.[] @article{5a755352e8884dde814a90668996d408, title "Trisomy 9 mosaicism with multiple congenital anomalies", abstract "A nine year old male with developmental abnormalities[] Of these, 14 resulted in abnormal offspring; 8 had multiple congenital anomalies , 7 had facial dysmorphism , 4 had congenital heart disease , 3 had urogenital abnormalities[]

  • Trisomy 20

    Nonetheless, some abnormal outcomes have been reported, including unexplained fetal demise, intrauterine growth restriction, and multiple congenital anomalies.[] Abnormal outcomes found include unexplained fetal demise , intrauterine growth restriction ( IUGR ) and multiple congenital anomalies .[] , Multiple / genetics*, pathology Adult Chromosomes, Human, Pair 20 / genetics* Female Genetic Counseling Humans Karyotyping Mosaicism* Pregnancy Trisomy / genetics*, pathology[]

  • XXXXY Syndrome

    We hope to remind clinicians to arrange chromosomal analysis if multiple congenital anomalies exist in a neonate.[] 49,XXXXY syndrome is a rare sex chromosome aneuploidy syndrome characterized by mental retardation, severe speech impairment, craniofacial abnormalities, multiple skeletal[] , Multiple Adolescent Diabetes Mellitus Humans Klinefelter Syndrome Male Sex Chromosome Aberrations Pub Type(s) Case Reports Journal Article Language eng PubMed ID 16357485[]

  • Trisomy 18

    There are many chromosome abnormalities that can mimic the dysmorphic features and multiple congenital anomalies present in trisomy 18.[] Here we present a female newborn with intrauterine growth retardation and multiple congenital abnormalities including: craniofacial anomaly, tracheoesophageal fistula, esophageal[] Most of the fetuses die in utero; those who take birth have a multiple system anomalies such as cardiac, renal, Gastro enteral, genitourinary and skeletal abnormalities.[]

  • Fraser Syndrome

    She had multiple congenital anomalies which included a cardiac defect and airway abnormalities.[] We report a case of 13-year-old male, who had multiple congenital anomalies and clinico radiological features consistent with Fraser syndrome without cryptophthalmos.[] We report a one year old girl with Fraser Syndrome (the association of craniofacial abnormalities, syndactaly and cryptophlamos) and multiple urogenital abnormalities including[]

  • Cri Du Chat Syndrome

    Background In 1963, Lejeune et al described a syndrome consisting of multiple congenital anomalies, mental retardation, microcephaly, abnormal face, and a mewing cry in infants[] Multiple ophthalmic abnormalities were found, including hypertelorism, telecanthus, epicanthal folds, antimongoloid palpebral fissures, exotropia, optic atrophy, and tortuosity[] Cri du chat syndrome is an inherited disease affecting multiple organ systems.[]

  • Williams Syndrome

    Clinically it consists of multiple cardiovascular and craniofacial structural abnormalities as well as developmental delay, specific cognitive difficulties, and a characteristic[]

  • Prader-Willi Syndrome

    , Multiple Congenital Abnormalities Chromosome Disorders Genetic Diseases, Inborn Obesity Overnutrition Nutrition Disorders Pharmaceutical Solutions[] , Multiple Congenital Abnormalities Chromosome Disorders Genetic Diseases, Inborn Obesity Overnutrition Nutrition Disorders Oxytocin Oxytocics Reproductive Control Agents[] Prader-Willi syndrome (PWS) is a complex disorder that affects multiple systems and may cause craniofacial and dentofacial abnormalities.[]

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