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A newborn girl is brought into the genetics department for a karyotype study. Sh

ID: 248973 • Letter: A

Question

A newborn girl is brought into the genetics department for a karyotype study. She was born of a 50y/o mother who feels that her child is developmentally retarded with characteristics "mongoloiddge" facial features; her pregnancy was uneventful. On physical examination, the child presents with generalized hypotonia; flattened face and low set ears; macroglossia; flattened nasal bridge and epicanthal folds;; single transverse palmar crease with widely split fixed S2 (due to an atrial septal defect). Karyotype reveals 47, XX; trisomy 21 On gross pathology, the child has brachycephalic head; small brain with shallow sulci; hypoplasia of frontal sinuses; endocardial cushion defect. Imaging: double bubble (dilated stomach and proximal duodenum) due to duodenal atresia. X-ray is unsignificant (plain); hypoplastic middle and terminal phalanges of fifth digits (Acromicria).

1) Please provide four (4) nursing differential diagnoses for this case

Explanation / Answer

The differential diagnosis for this case are:

The nursing differntial diagnosis are:

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