Introduction Mohr syndrome, or Orofaciodigital syndrome type II (OFD2), represents a very rare genetic disorder in which there is a triad of craniofacial anomalies, oral malformations, and digital deformities. While classic findings such as lobulated tongue, cleft palate, and broad nasal root mainly remain in the domain of pediatricians and…
Tag: Genetics
PGMEE, MRCS, USMLE, MBBS, MD/MS
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Fabry Disease : Mnemonic
Mnemonic: FABRY CX 1. Febrile episodes, Foam cells 2. Angiokeratomas, Alpha galactosidase A deficiency 3. Burning pains in hands and feet 4. Renal failure 5. Youth death 6. Cardiovascular disease, Ceramide trihexoside accumulation 7. X-linked recessive inheritance Further reading:
PGMEE, MRCS, USMLE, MBBS, MD/MS
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Patau Syndrome : Mnemonic
Chromosomal abnormality Count the letters in “Patau Syndrome”. There are 13 letters. Patau syndrome is Trisomy 13. Clinical features Mnemonic: PATAU
PGMEE, MRCS, USMLE, MBBS, MD/MS
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Osteogenesis Imperfecta : Mnemonic
Synonym: Brittle Bone Disease Incidence: 1 in 20,000 Gene defect: Col1A1 (17q) and Col1A2 (7q) Mnemonic: Remember “one” for “bone”. Collagen one is the main composition of bone. OI is a disorder of bone. Hence, the defect is is in Col1. Features Mnemonic: BLOOD Sillence Type Inheritance Features Mnemonic Collagen…