case_images: PMC11284092_01
case_images: PMC11284092_02
case_images: Radiological images showing (A) the internal notch in the second metacarpal and the external notch in the fifth metacarpal, (B) ovoid vertebral bodies, (C) cone-shaped epiphysis of the left leg in patient 1, and (D) hip dysplasia and the internal notch of the femoral heads in patient 2. Ultrasound images showing (E) aortic valve stenosis with an inner diameter of 15 mm and (F) a mild increase in aortic outflow of 2.2 ms-1 in patient 2.
case_images: fped-12-1428513-g001.jpg
case_images: PMC11284092_04_fped-12-1428513-g001.jpg
case_images: F1
case_images: Given that the proband, her elder sister and mother were all present with typical facial features, significant short stature and skeletal abnormalities (Supplementary Figure S1 and Table S1), DNA extraction and variant analysis were performed.
case_images: PMC11284092_03
case_images: Radiological images showing (A) the internal notch in the second metacarpal and the external notch in the fifth metacarpal, (B) ovoid vertebral bodies, (C) cone-shaped epiphysis of the left leg in patient 1, and (D) hip dysplasia and the internal notch of the femoral heads in patient 2. Ultrasound images showing (E) aortic valve stenosis with an inner diameter of 15 mm and (F) a mild increase in aortic outflow of 2.2 ms-1 in patient 2.
case_images: fped-12-1428513-g001.jpg
case_images: PMC11284092_04_fped-12-1428513-g001.jpg
case_images: F1
case_images: Given that the proband, her elder sister and mother were all present with typical facial features, significant short stature and skeletal abnormalities (Supplementary Figure S1 and Table S1), DNA extraction and variant analysis were performed.
case_images: PMC11284092_04
case_images: Radiological images showing (A) the internal notch in the second metacarpal and the external notch in the fifth metacarpal, (B) ovoid vertebral bodies, (C) cone-shaped epiphysis of the left leg in patient 1, and (D) hip dysplasia and the internal notch of the femoral heads in patient 2. Ultrasound images showing (E) aortic valve stenosis with an inner diameter of 15 mm and (F) a mild increase in aortic outflow of 2.2 ms-1 in patient 2.
case_images: fped-12-1428513-g001.jpg
case_images: PMC11284092_04_fped-12-1428513-g001.jpg
case_images: F1
case_images: Given that the proband, her elder sister and mother were all present with typical facial features, significant short stature and skeletal abnormalities (Supplementary Figure S1 and Table S1), DNA extraction and variant analysis were performed.
case_images: The family pedigree and sanger sequencing chromatograms. (A) Pedigree chart of the family with acromelic dysplasia. The dark circles (female) indicate the individuals with acromelic dysplasia carrying a heterozygous FBN1 mutation. The white squares (male) indicate the individuals who do not carry a heterozygous FBN1 mutation. The dark arrow below the patient denotes the proband. (B) Sanger sequencing confirms a heterozygous missense mutation, c.5179C>T (p.Arg1727Trp) in exon 42 of the FBN1 (NM_000138.5), in I.2, II.1, and II.3, indicated by the red square. AD, acromicric dysplasia; GD2, geleophysic dysplasia 2.
case_images: fped-12-1428513-g002.jpg
case_images: PMC11284092_04_fped-12-1428513-g002.jpg
case_images: F2
case_images: The results identified a heterozygous missense mutation in exon 42 of the FBN1 gene (NM_000138.5): c.5179C>T (p.Arg1727Trp) characterized by autosomal dominant inheritance pattern in the proband, her mother, and elder sister, while neither her father nor elder brother was affected (Figure 2).