Int J Clin Pediatr

International Journal of Clinical Pediatrics, ISSN 1927-1255 print, 1927-1263 online, Open Access

Article copyright, the authors; Journal compilation copyright, Int J Clin Pediatr and Elmer Press Inc

Journal website https://www.theijcp.org

Case Report

Volume 13, Number 2, June 2024, pages 60-65

New Variant Found in the Bone Morphogenetic Protein Receptor 1B Gene in a Neonate With Trisomy 21

Figures

Figure 1. Chest X-ray after birth.

Figure 2. Chest X-ray after admission after two doses of surfactant. Features suggest the possibility of pulmonary interstitial emphysema in a known respiratory distress.

Figure 3. Chest X-ray showing severe pulmonary interstitial emphysema picture, honey-comb appearance and cystic changes.

Tables

**Table 1.** Genetic Test Result (Custom Gene Panel)
Gene	Variant	Zygosity	Parent of origin	Disease	Inheritance	Classification
BMPR1B NM_001203.3	c.1172A>G p.(His391Arg)	Heterozygous	Unknown	Heritable pulmonary arterial hypertension	Autosomal dominant	Uncertain
				Acromesomelic dysplasia	Autosomal recessive
				Brachydactyly	Autosomal dominant

**Table 2.** Lab Investigations
	WBC	Hb	Plt	ANC	CRP	Cr	ALT	ALP	Alb	TP	Glb	Urea	Blood culture	Respiratory culture
Urea is expressed in mg/dL. WBC: white blood count (× 10 raised to 3/µL); Hb: hemoglobin (g/dL); Plt: platelets (× 10 raised to 3/µL); ANC: absolute neutrophil count (× 10 raised to 3/µL); CRP: C-reactive protein; Cr: creatinine; ALT: alanine transaminase (U/L); ALP: alkaline phosphatase (U/L); Alb: albumin (g/dL); TP: total protein (g/dL); Glb: globulin (g/dL).
Day 1	12.2	14.5	234	7.1	11.1	0.7	-	-	-	-	-	45	No growth	No growth
Day 7	11.7	12.7	127	8.4	22.8	0.5	-	-	-	-	-		No growth	No growth
Day 37	14.3	10.4	413	11.7	8.4	0.3	10	454	3	5.9	2.9	9	No growth	No growth