Hello!
Here's a post on Fanconis anemia!
Fanconi anemia, or constitutional aplastic anemia, is an autosomal recessive disorder, in which there is a genetic defect in a cluster of proteins responsible for DNA repair. Numerous physical abnormalities are often present at birth, and aplastic anemia occurs at about the age of 5 years. Chromosomal breakage analysis can be used to make the diagnosis.
Here's my mnemonic + notes:
Facial anomalies: Microcephaly, small eyes, epicanthal folds, abnormal shape ears, or absent ears.
Upper limb anomalies: Absent thumb and radius, Triphalangeal thumbs.
Kidney abnormalities: Horseshoe kidney, absent, or duplicate kidney.
Macrocytic anemia with variable progression to full-blown pancytopenia.
Intellectual disability: Seen in only 10% of the patients.
Short stature: See the short S in the image? :D
Skin abnormalities: Hyperpigmentation of the trunk and intertriginous areas, café-au-lait spots, vitiligo.
Patients with Fanconi anemia are also susceptible to leukemia and epithelial carcinomas.
That's all!
-IkaN (Missing my note and stylus S pen so much T_T )
Here's a post on Fanconis anemia!
Fanconi anemia, or constitutional aplastic anemia, is an autosomal recessive disorder, in which there is a genetic defect in a cluster of proteins responsible for DNA repair. Numerous physical abnormalities are often present at birth, and aplastic anemia occurs at about the age of 5 years. Chromosomal breakage analysis can be used to make the diagnosis.
Here's my mnemonic + notes:
Facial anomalies: Microcephaly, small eyes, epicanthal folds, abnormal shape ears, or absent ears.
Upper limb anomalies: Absent thumb and radius, Triphalangeal thumbs.
Kidney abnormalities: Horseshoe kidney, absent, or duplicate kidney.
Macrocytic anemia with variable progression to full-blown pancytopenia.
Intellectual disability: Seen in only 10% of the patients.
Short stature: See the short S in the image? :D
Skin abnormalities: Hyperpigmentation of the trunk and intertriginous areas, café-au-lait spots, vitiligo.
Patients with Fanconi anemia are also susceptible to leukemia and epithelial carcinomas.
That's all!
-IkaN (Missing my note and stylus S pen so much T_T )
Thanx a lot........following up your Mnemonics since a long time! and i owe you a big thanx for that...
ReplyDeleteGlad to know you have been studying with me!
DeleteNo problem, repay the debt with prayers and good wishes and you owe me nothing! :)
Can anyone put up mnemonics for different pupillary defects
DeleteSOMETIME X LINK RECESSIVE also
ReplyDeleteWell done. I love your mnemonics. I am one of your followers :)
ReplyDeleteThank you ❤️
DeleteThanks for sharing.most of them were useful
ReplyDelete