... , Taieb   D , Henry   JF , et al . Management of endocrine disease: outcome of adrenal sparing surgery in heritable pheochromocytoma . Eur J Endocrinol   2016 ; 174 : R9 - 18 . 37. Koch   CA , Mauro   D , Walther   MM , et al . Pheochromocytoma in von hippellindau disease...

... line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms . Science   1990 ; 250 : 1233 - 8 . 72. Frebourg   T , Bajalica Lagercrantz   S , Oliveira   C , et al . Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes . Eur J Hum...

... al . Finding the missing heritability of complex diseases . Nature   2009 ; 461 : 747 - 53 . 32. Bourdeaut   F , de Carli   E , Timsit   S , et al . VIP hypersecretion as primary or secondary syndrome in neuroblastoma: a retrospective study by the Société Française des Cancers de...

... . J Clin Epidemiol   2002 ; 55 : 1075 - 81 . 4. Wachsmuth   RC , Gaut   RM , Barrett   JH , et al . Heritability and gene-environment interactions for melanocytic nevus density examined in a U.K. adolescent twin study . J Invest Dermatol   2001 ; 117 : 348 - 52 . 5. Lee   S...

.... Metcalf   JS , Maize   JC . Clark’s nevus . Semin Cutan Med Surg   1999 ; 18 : 43 - 6 . 5. Clark   WH   Jr , Reimer   RR , Greene   M , Ainsworth   AM , Mastrangelo   MJ . Origin of familial malignant melanomas from heritable melanocytic lesions. The “B-K mole syndrome...

... heritable implications of these diagnoses. Forensic. Forensic examinations are performed primarily for adjudicating the cause and manner of death. Many forensic autopsies are ultimately deemed to have a cause of death that is cardiovascular in nature. Consequently, thorough and careful cardiac examination...

... is seen, as well as medial disorganization ( fig. 31-16 ). Treatment of aneurysms with coil embolization may be attempted ( fig. 31-17 ). Familial thoracic aortic aneurysm and dissection (FTAAD) is a demonstrated heritable aortic aneurysm syndrome, but does not meet defined characteristics...

... Proteins. While typically associated with heritable arrhythmia syndromes, ion channel proteins responsible for maintaining ionic gradients within the myocyte have also been implicated in rare cases of DCM. Perhaps not surprisingly, these also have been associated with conduction delay and arrhythmic...

...). Rarely, an interrupted aortic arch, right aortic arch, or aberrant subclavian artery coexist. Extracardiac anomalies are present in 25 percent and occur most often with heritable disorders such as Noonan, Holt-Oram, CHARGE, Turner, Down, and other syndromes. Right Ventricle. It consists of inlet...

...Until recently, it was accepted that approximately 10 percent of ovarian cancers were heritable, mostly due to BRCA1 or BRCA2 germline mutations. Currently, it is estimated that at least 20 percent of ovarian cancers are due to familial tumor predisposition syndromes, which...

... , Brown   MR , Hurley   DL , et al . Heritable disorders of pituitary development . J Clin Endocrinol Metab   1999 ; 84 : 4362 - 70 . 358. Pernasetti   F , Toledo   SP , Vasilyev   VV , et al . Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency...

... accounting for about 25 percent of cases ( 19 ). As an underlying genetic abnormality is becoming increasingly evaluated for and identified in multiglandular parathyroid disease, the actual number of truly sporadic cases is likely less than historically reported. Heritable parathyroid hyperplasia can occur...

...   P , Kunz   EK , Matias-Guiu   X , et al . Analysis of RET proto-oncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas . Cancer   1995 ; 76 : 479 - 89 . 734. Lloyd   RV . RET proto-oncogene mutations and rearrangements in endocrine...

... factors play a key role in the development of GCNIS and its tumors, there is evidence that genetic factors are important. It has been estimated that 37 percent of the risk for testicular germ cell tumors is represented by genetic effects, ranking testicular cancer 7th of 16 cancer types for heritability...

... are affected, ranging from 2 months to 78 years; most are younger than 40 years at diagnosis ( 21 , 22 ). The genders are equally affected, and it is nonsyndromic and not a heritable disease. The lesion presents as progressive loss of bone that may cross articulations and does not form a tumoral mass. Standard...

... gestation genetics is with women and their female relatives exhibiting heritable and therefore recurrent molar pregnancies. In these kindreds, affected women have autosomal dominant genetic mutations in the KIP57 gene pathway, such that the maternal expression (and therefore inhibition) is lost...

... diarrhea ( 103 ). Most cases have been reported in older adults from Europe, the United States, and Japan ( 104 ). The etiology of Cronkhite-Canada syndrome is unknown but the disorder is best considered a form of non-heritable inflammatory polyposis; extraintestinal manifestations of disease are mostly...

... to maternal obesity and heavy smoking, although familial clustering in some cases suggests a heritable component ( 1 , 2 ). Most malformations are accompanied by an imperforate anus, which is generally evident upon physical examination. Patients who are not treated immediately after birth develop intestinal...

... thyroiditis, Addison disease, diabetes mellitus, hemolytic anemia, mucocutaneous manifestations, and recurrent infections ( 100 ). The classification of autoimmune polyendocrinopathy syndromes is summarized in Table 5-2 . Table 5-2 FEATURES OF HERITABLE AUTOIMMUNE POLYENDOCRINOPATHY SYNDROMES...

... disease is a heritable malabsorptive disorder resulting from failed development of the small intestinal brush border. Synonyms include Davidson disease, congenital microvillus atrophy, and familial enteropathy. Clinical Features. Patients present with intractable diarrhea...