PMC6538945_01
Prenatal onsets (A) oligohydramnios; (B) The normal heart silhouette, increased cardiothoracic ratio and small lung volume demonstrating pulmonary hypoplasia.
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F1
By 36 weeks, an ultrasound showed oligohydramnios and a normal heart silhouette, increased cardiothoracic ratio, and a small lung volume, indicating pulmonary hypoplasia (Figure 1).
Clinical phenotype: facial dysmorphia; pinna development deformity; ichthyosis, joint contractures, anasarca; peeling skin on limbs and groin. The black line shows the boundaries of the liver and spleen, indicating hepatosplenomegaly; small microcaulia.
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F2
The neonate had many special clinical phenotypes (Figure 2).
(A) Lack of air in the lung; (B) Multiple hemorrhagic lesions in the left frontal, temporal and parietal lobes.
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F3
At 2 d of age, lung computed tomography indicated a lack of air in the lungs (Figure 3A), and a brain computed tomography revealed multiple hemorrhagic lesions in the left frontal, temporal and parietal lobes (Figure 3B).
Genotyping results: (A) Chromatograms showing DNA sequencing results for the proband and parents. Genomic DNA isolated from leukocytes (proband, mother, and father) demonstrated a novel heterozygous A-to-C transition at position 1,238 in exon 10 of the GBA gene was identified in the proband, which resulted in a His413Pro mutation. The mutation was not detected in the parental genomic DNA. (B) A heterozygous G-to-A transition at position 701 in exon 7 of the GBA gene in the mother and the proband, which resulted in a Gly234Glu mutation in the maternal and proband's genomic DNA.
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F4