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…
Tag: Pediatrics
Section Editor: Dr. Sujit Kumar Shrestha, MD Pediatrics, Fellowship Neonatology
PGMEE, MRCS, USMLE, MBBS, MD/MS
BIND score in severe hyperbilirubinemia
Bilirubin-induced neurologic dysfunction (BIND) Score is used to assess bilirubin induced encephalopathy in neonates with severe hyperbilirubinemia. Johnson et al developed the BIND score to help identify an infant who requires more aggressive monitoring and management. The scoring system has 3 parameters: 1. Cry pattern 2. Behavior and mental status…
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Breast Engorgement in Newborns : Galactorrhea or Witch’s Milk
Scenario Concerned parents appear in the Out patient Department, with a newborn who has bilateral breast engorged and obviously secreting milk. Parents had tried to squeeze the milk out but instead the breast got further engorged. Few months before a neonate was admitted for Intravenous antibiotics for similar problem, after…
PGMEE, MRCS, USMLE, MBBS, MD/MS
Friedreich’s Ataxia : Mnemonic
Friedreich’s ataxia is a hereditary spinocerebellar degenerative disorder named after German neurologist, Professor Nicholaus Friedreich. Mnemonic: FRIEDREICH’S Ataxia 1. Foot deformity (progressive cavo-varus), Frataxin expression reduced 2. Recessive (autosomal), Repeat of trinucleotide GAA (chromosome 9) 3. Iron accumulation in mitochondria 4. Extensor plantar response 5. Dysarthria (within 5 years of…
PGMEE, MRCS, USMLE, MBBS, MD/MS
Edward Syndrome : Mnemonic
Mnemonic: EDWARDS 1. Eighteen trisomy, Elongated skull 2. Digit overlapping with clenched fist 3. Webbing of 2nd and 3rd toes 4. Absent radii, Arthrogryposis 5. Rocker-bottom feet 6. Dysplastic ears, Disability (intellectual), Diseased heart (VSD) 7. Small lower jaw
Surgical Skills
Percutaneous Achilles Tenotomy for CTEV
Indications Cavus, Adductus and Varus are fully corrected but ankle dorsiflexion remains <10 degrees above neutral Adequate abduction: Best sign: Ability to palpate anterior process of the calcaneus as it abducts out from beneath the talus Abduction of approximately 60 degrees Neutral or slight valgus of os calcis Technique 1….
PGMEE, MRCS, USMLE, MBBS, MD/MS
CTEV Made Easy
CAVE deformities Mnemonic Deformity Site Components C Cavus Midfoot Plantar flexed 1st metatarsal A Adductus Forefoot (Tarsometatarsal joint) Medial displacement of navicular and cuboid along with talar neck and head; Calcaneus and distal calcaneal articulating surfaces adducted along V Varus Hindfoot (Subtalar joint) Calcaneum is adducted, plantar flexed and inverted…
PGMEE, MRCS, USMLE, MBBS, MD/MS
Osteopetrosis : Mnemonic
Synonyms: Marble bone disease Albers-Schonberg disease (Autosomal dominant form) Mnemonic: OSTEOPETROSIS Osteoclast dysfunction (Carbonic anhydrase II gene mutation or chloride channel dysfunction) Symmetric skeletal sclerosis Thickened cortex with loss of medullary canal diameter (bone in bone appearance) Extramedullary hematopoiesis (aplastic anemia and hepatosplenomegaly) Overgrowth of skull foramina (cranial nerve palsies)…