• The chapter 'Ovarian Dysgenesis and Premature Ovarian Failure Caused by X Chromosomal Abnormalities' considers ovarian failure caused by abnormalities of the X chromosome (Turner syndrome), and begins with a review of reproductive embryology to which the reader may wish to refer. (glowm.com)
  • indicated that analysis of the LAMB2 gene, which is mutated in Pierson syndrome (OMIM #609049), could be included in the diagnostics of early onset nephrotic syndrome with absence of extrarenal abnormalities. (thefreelibrary.com)
  • The oculo-auricular syndrome is characterized by ophthalmic anomalies (microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy) and a particular cleft ear lobule. (humpath.com)
  • In about 10-20% of cases, CDH is caused by a genetic syndrome (trisomies 21, 18, and 13), while about 40% of cases are associated with other organ structure abnormalities (nonisolated). (childrenscolorado.org)
  • Saylam K, Simon P, 2003 WT1 gene mutation responsible for male sex reversal and renal failure: the Frasier syndrome. (springer.com)
  • Bonte A, Schroder W, Denamur E, Querfeld U. Absent pubertal development in a child with chronic renal failure: the case of Frasier syndrome. (edu.pl)
  • [ 1 ] This condition clinically manifests as an early onset nephrotic syndrome and progresses to renal failure during the first 3 years of life. (medscape.com)
  • The absence of such alterations in three patients with Frasier syndrome provides a molecular basis for distinguishing these two syndromes that are associated with streak gonads, pseudohermaphroditism and renal failure. (uni-wuerzburg.de)
  • A complete medical history, review of systems, growth pattern, and physical examination will reveal most of the systemic diseases and conditions capable of arresting development or delaying puberty, as well as providing clues to some of the recognizable syndromes affecting the reproductive system. (wikipedia.org)
  • Secondary nephrotic syndrome is defined as nephrotic syndrome associated with well-defined diseases that are inflammatory (e.g., lupus nephritis, acute postinfectious glomerulonephritis, IgA nephropathy, Henoch-Schönlein purpura, etc.) or not (e.g. (hindawi.com)
  • Diseases like diabetes, hepatitis, lupus, HIV, malaria, streptococcal infection and Henoch-Schönlein purpura are some diseases that are associated with the secondary nephrotic syndrome. (firstcry.com)
  • Among them is Dr. Lori Frasier, who heads the child-protection program at Penn State's Hershey Medical Center and is president of a national society of pediatricians specializing in child abuse prevention and treatment. (seattletimes.com)
  • We're worried we're at the beginning of an onslaught of cases," said Dr. Lori Frasier, chief of the child abuse pediatrics division at Penn State Children's Hospital. (jacksonville.com)
  • Sire and need to be either esophageal or secretion of adrenal failure primary empty sella syndrome radiation or with new diagnoses having poor weight gain, and nutrient pediatric endocrinology growth hormone deficiency (gene por, omim ) sone causing a progression of severity of infection with salmonella species in the newborn with a cytology brush. (wellchild.org)
  • Frasier syndrome is inherited in an autosomal dominant fashion, indicating the need for only one mutated allele in a cell to lead to expression of the disease. (wikipedia.org)
  • We reviewed 88 Frasier syndrome cases in the literature and classified them into three types (type 1-3) according to external genitalia and sex chromosomes, and described their clinical phenotypes. (aacrjournals.org)
  • Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. (wiley.com)
  • Genomic DNA samples (n = 33) for analysis were chosen from the DNA Repository for Childhood Nephrotic Syndrome (NS) at the Department of Clinical and Molecular Biochemistry, Pomeranian Medical University, Szczecin, Poland. (thefreelibrary.com)
  • For many years, Dr Frasier, who is a pediatric endocrinologist, participated in pioneering work on the clinical use of both human and recombinant GH. (aappublications.org)
  • Defects in WT1 are the cause of Frasier syndrome (FS) [MIM: (abcam.com)
  • In May 2018, The Society for Pediatric Radiology (SPR), European Society of Paediatric Radiology (ESPR), American Society of Pediatric Neuroradiology (ASPNR), American Academy of Pediatrics (AAP), European Society of Neuroradiology (ESNR), American Professional Society on the Abuse of Children (APSAC), Swedish Paediatric Society, Norwegian Pediatric Association and Japanese Pediatric Society published a joint consensus statement on abusive head trauma/shaken baby syndrome. (dontshake.org)
  • Shaken Baby Syndrome/Abusive Head Trauma (SBS/AHT) is a term used to describe the constellation of signs and symptoms resulting from violent shaking or shaking and impacting of the head of an infant or small child. (dontshake.org)
  • Klamt B, Koziell A, Poulat F, et al, 1998 Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 _/_ KTS splice isoforms. (springer.com)
  • Teenagers or a child who has an unusual presentation - such as having hypertension, cellular casts in the urine, or signs of systemic disease leading to the nephrotic syndrome - should have a renal biopsy done before commencing immunosuppressive therapy. (renalandurologynews.com)