case_images: PMC11169720_01
case_images: Appearance of the proband. (A,D) Congenital contractures of the face and limbs (broad nasal bridge and ulnar deviation). (B,C,E) Deformity of the foot (varus deformity).
case_images: fped-12-1370790-g001.jpg
case_images: PMC11169720_01_fped-12-1370790-g001.jpg
case_images: F1
case_images: The boy was born with varus deformity and ulnar deviation of the fingers (see Figure 1). His facial features included a broad nasal bridge, large nares, a long philtrum, and micrognathia (see Figure 1).
case_images: De novo NALCN variant of the proband. Whole-exome sequencing revealed the c.3553G > A (p. Ala1185Thr) missense variant.
case_images: fped-12-1370790-g002.jpg
case_images: PMC11169720_01_fped-12-1370790-g002.jpg
case_images: F2
case_images: A (p. Ala1185Thr) heterozygosity variation, which was determined to be a new variation through a comparison with the results of parental DNA Sanger sequencing (see Figure 2).