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

Answer 1

The differential diagnosis for this case are:

• Trisomy 21
• Zellwenger syndrome
• Isolated hypotonia
• Congenital hypothyroidism

The nursing differntial diagnosis are:

• Delayed growth and development related to impaired ability to achieve developmental task
• Risk of infection related to decresed muscle tone.
• Ineffective breast feeding due duodenal atresia
• Ineffective breathing pattern related to atrial septal defect as evidenced by shortness of breadth and split fixed S2