NBME USMLE BRS Path terms Latest Update
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Chediak Higashi syndrome - (ANSWERS)autosomal recessive, neutropenia, albinism, cranial
and peripheral neuropathy, tendency to develop repeated infections, abnormal wbcs
(abnormal mictotubul formation and large cytoplasmic granules = lysosomes) p25
Cri du chat syndrome - (ANSWERS)5p chromosome deletion, severe mental retardation,
microcephaly, catlike cry, low birth weight, round face, hypertelorism (wide eyes) p51
Digeorge syndrome - (ANSWERS)aka velocardiofacial syndrome and CATCH 22 syndrome,
micro deletion of 22q11, Cardiac abnormalities, Abnormal facies, T cell deficit due to thymic
hypoplasia, Cleft palate, Hypocalcemia due to hypoparathyroidism, from poor development of
3rd and 4th cranial arches p51 and p73
Edwards syndrome - (ANSWERS)aka trisomy 18, mental retardation, prominent occiput,
micrognathia (small jaw), low::set ears, rocker::bottom feet, finger deformities, congenital
heart dx p51
Patau syndrome - (ANSWERS)aka trisomy 13, mental retardation, microcephaly,
micropthalmia, brain abnormalities, cleft lip/palate, polydactyly, rockerbottom feet, congenital
heart dx p51
Klinefelter syndrome - (ANSWERS)at least 2 X and one Y, hypogonadism, tall, gynecomastia,
low testosterone, high pituitary gonadotropins, infertility, p51
Turner syndrome - (ANSWERS)45 XO, female hypogonadism, hypothyroid, short, webbed neck,
1* amenorrhea p52
Prader willi syndrome - (ANSWERS)paternal transmission del (15)(q11q13), hypogonad,
hypotonia, mental retardation, behavior probs, uncrontrolled appetite p53
Angelman syndrome - (ANSWERS)materal transmission del(15)(q11q13), aka happy puppet
syndrome, mental retardation, ataxia, seizures, inappropriate laughter p53
Osler Weber Rendu syndrome - (ANSWERS)aka hereditary hemorrhagic telangectasia,
telangectasias in skin and mucous membranes, epistaxis, GI bleeds p55 and p189
Marfan syndrome - (ANSWERS)deficient fibrillin (constituent of microfibrils), arachnodactyly,
ectopia lentis, aortic aneurysm, mitral valve prolapsed p55
, NBME USMLE BRS Path terms Latest Update
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Von Recklinhousen dx - (ANSWERS)aka neurofibromatosis, neurofibromas in skin,
schwannomas of CN VIII, café au lait spots, lisch nodules, skeletal disorders, other tumors,
mutated NF1 tumor suppressor gene, osteolytic lesions, brown tumors p55 and p96 and 347
Von Hippel Lindau dx - (ANSWERS)hemangioblastoma or cavernous hemangioma of
cerebellum, brainstem or retina, adenomas, cysts in liver, kidney, pancreas, and other organs,
increased renal cell CA, gene = short arm of chromosome 3 p55 and p127
Tay Sachs dx - (ANSWERS)deficient hexosaminidase A, GM2 ganglioside accumulation,
especially in neurons, CNS degeneration, mental/motor deterioration, blindness, cherry red
spot on macula, death by 4 years of age p56
Gaucher dx - (ANSWERS)deficient glucocerebrosidase, accumulation of glucocerebroside in
cells of mononuclear phagocyte system 3 types :: see p 56
Niemann Pick dx - (ANSWERS)deficient sphingomyelinase, accumulation of sphingomyelin in
phagocytes, foamy histiocytes in liver, spleen, lymph nodes, skin, hepatosplenomegaly,
anemia fever, occasional neuro degeneration, half have cherry red spot macula p 57
Hurler syndrome - (ANSWERS)mucopolysaccharidosis, deficient a L iduronidase,
accumulations of heparin sulfate and dermatan sulfate in heart, brain, liver, and other organs,
progressive, hepatosplenomagaly, dwarfism, gargoyle-like facies, stubby fingers, corneal
clouding, mental retardation, death by 10 years of age p57
Von Gierke dx - (ANSWERS)deficient glucose-6-phosphatase, accumulation of glycogen in liver
and kidney, hepatomegaly, hypoglycemia p57
Pompe dx - (ANSWERS)deficient a1,4 glucosidase, accumulation of glycogen in liver, heart,
skeletal muscle, cardiomegaly, muscle hypotonia, spelnomegaly, intractable hypoglycemia,
death from cardiorespiratory failure before age 3 p57
Cori dx - (ANSWERS)deficient debranching enzyme amylo-1,6-glucosidase, glycogen in liver,
heart, skeletal muscle, stunted growth, hepatomegaly, hypoglycemia p57
Mcardle syndrome - (ANSWERS)deficient muscle phosphorylase, glycogen in skeletal muscle,
cramps with exertion p57
Questions and 100% Verified Correct Answers
Actual Exam Guaranteed A+
Chediak Higashi syndrome - (ANSWERS)autosomal recessive, neutropenia, albinism, cranial
and peripheral neuropathy, tendency to develop repeated infections, abnormal wbcs
(abnormal mictotubul formation and large cytoplasmic granules = lysosomes) p25
Cri du chat syndrome - (ANSWERS)5p chromosome deletion, severe mental retardation,
microcephaly, catlike cry, low birth weight, round face, hypertelorism (wide eyes) p51
Digeorge syndrome - (ANSWERS)aka velocardiofacial syndrome and CATCH 22 syndrome,
micro deletion of 22q11, Cardiac abnormalities, Abnormal facies, T cell deficit due to thymic
hypoplasia, Cleft palate, Hypocalcemia due to hypoparathyroidism, from poor development of
3rd and 4th cranial arches p51 and p73
Edwards syndrome - (ANSWERS)aka trisomy 18, mental retardation, prominent occiput,
micrognathia (small jaw), low::set ears, rocker::bottom feet, finger deformities, congenital
heart dx p51
Patau syndrome - (ANSWERS)aka trisomy 13, mental retardation, microcephaly,
micropthalmia, brain abnormalities, cleft lip/palate, polydactyly, rockerbottom feet, congenital
heart dx p51
Klinefelter syndrome - (ANSWERS)at least 2 X and one Y, hypogonadism, tall, gynecomastia,
low testosterone, high pituitary gonadotropins, infertility, p51
Turner syndrome - (ANSWERS)45 XO, female hypogonadism, hypothyroid, short, webbed neck,
1* amenorrhea p52
Prader willi syndrome - (ANSWERS)paternal transmission del (15)(q11q13), hypogonad,
hypotonia, mental retardation, behavior probs, uncrontrolled appetite p53
Angelman syndrome - (ANSWERS)materal transmission del(15)(q11q13), aka happy puppet
syndrome, mental retardation, ataxia, seizures, inappropriate laughter p53
Osler Weber Rendu syndrome - (ANSWERS)aka hereditary hemorrhagic telangectasia,
telangectasias in skin and mucous membranes, epistaxis, GI bleeds p55 and p189
Marfan syndrome - (ANSWERS)deficient fibrillin (constituent of microfibrils), arachnodactyly,
ectopia lentis, aortic aneurysm, mitral valve prolapsed p55
, NBME USMLE BRS Path terms Latest Update
Questions and 100% Verified Correct Answers
Actual Exam Guaranteed A+
Von Recklinhousen dx - (ANSWERS)aka neurofibromatosis, neurofibromas in skin,
schwannomas of CN VIII, café au lait spots, lisch nodules, skeletal disorders, other tumors,
mutated NF1 tumor suppressor gene, osteolytic lesions, brown tumors p55 and p96 and 347
Von Hippel Lindau dx - (ANSWERS)hemangioblastoma or cavernous hemangioma of
cerebellum, brainstem or retina, adenomas, cysts in liver, kidney, pancreas, and other organs,
increased renal cell CA, gene = short arm of chromosome 3 p55 and p127
Tay Sachs dx - (ANSWERS)deficient hexosaminidase A, GM2 ganglioside accumulation,
especially in neurons, CNS degeneration, mental/motor deterioration, blindness, cherry red
spot on macula, death by 4 years of age p56
Gaucher dx - (ANSWERS)deficient glucocerebrosidase, accumulation of glucocerebroside in
cells of mononuclear phagocyte system 3 types :: see p 56
Niemann Pick dx - (ANSWERS)deficient sphingomyelinase, accumulation of sphingomyelin in
phagocytes, foamy histiocytes in liver, spleen, lymph nodes, skin, hepatosplenomegaly,
anemia fever, occasional neuro degeneration, half have cherry red spot macula p 57
Hurler syndrome - (ANSWERS)mucopolysaccharidosis, deficient a L iduronidase,
accumulations of heparin sulfate and dermatan sulfate in heart, brain, liver, and other organs,
progressive, hepatosplenomagaly, dwarfism, gargoyle-like facies, stubby fingers, corneal
clouding, mental retardation, death by 10 years of age p57
Von Gierke dx - (ANSWERS)deficient glucose-6-phosphatase, accumulation of glycogen in liver
and kidney, hepatomegaly, hypoglycemia p57
Pompe dx - (ANSWERS)deficient a1,4 glucosidase, accumulation of glycogen in liver, heart,
skeletal muscle, cardiomegaly, muscle hypotonia, spelnomegaly, intractable hypoglycemia,
death from cardiorespiratory failure before age 3 p57
Cori dx - (ANSWERS)deficient debranching enzyme amylo-1,6-glucosidase, glycogen in liver,
heart, skeletal muscle, stunted growth, hepatomegaly, hypoglycemia p57
Mcardle syndrome - (ANSWERS)deficient muscle phosphorylase, glycogen in skeletal muscle,
cramps with exertion p57
