Comment on the diagnosis?
Ans. (a) Down syndrome.Notice the hypotonia with facial grimace and a wide gap between the first and second toe of the foot. The karyotype confirms it to be trisomy 21.Mnemonic for DOWN Syndrome is "CHILD HAS PROBLEM"* Cataracts/heart disease (Endocardial cushion defect)* Hypotonia/hyperthyroidism* Incur 5th finger/Increased gap between 1st and 2nd toes* Leukemia (risk x 2)/Lung problems* Duodenal atresia/Delayed development* Hirschsprung's disease/Hearing loss* Alzheimer's disease/Atlantoaxial instability* Short neck/Squint* Protruding tongue/Palmar crease* Round face/Rolling eye (nystagmus)* Oblique eye fissure/Occiput flat* Behavioral difficulties* Low nasal bridge/Language problem* Epicanthic fold/Ear folded* Mental retardation/MyoclonusImage source- style="font-family: Times New Roman, Times, serif">
Down syndrome
Turner syndrome
Prader-Willi syndrome
Patau syndrome
Cytogenetic Disorders