case_images: PMC10043213_01
case_images: PMC10043213_02
case_images: PMC10043213_03
case_images: PMC10043213_04
case_images: PMC10043213_05
case_images: Changes in patients' routine blood examination. (A) Changes in patients' RBC levels. (B) Changes in patients' PLT levels. (C) Changes in patients' Hb levels. (D) Changes in patients' WBC levels. *Transfusion treatments: Patient 1 received RBC 0.25 U; Patient 4 received PLT 0.75 U.
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case_images: F1
case_images: Routine blood tests in Patients 1 and 4 showed that RBC, PLT, and Hb always remained below normal levels (Figures 1A-C). WBC findings in Patient 4 were always higher than normal, possibly associated with recurrent respiratory infections (Figure 1D).
case_images: Patient x-rays. (A) Patient 1: significant increase in bone density observed at skull base (arrow). (B) Patient 1: vertebral endplate showed typical "sandwich vertebrae" appearance. (C) Patient 2: generalized increase in bone density and typical pelvic wing "bone-in-bone" evident (arrow); high-bone density under the cartilage in the pelvis (arrow). (D) Patient 2: diffusely increased bone density confirmed and osteopetrosis in the distal metaphysis of the femur showed typical "bone-in-bone" appearance (arrow). (E) Patient 3: head mass was identified with a hard quality and swelling around the frame and uneven bone density detected. (F) Patient 3: vertebral endplate showed typical "sandwich vertebrae" appearance. (G) Patient 4: diffuse increase in bone density at the upper radius (arrow), showing "bone-in-bone" appearance. (H) Patient 4: vertebral endplate appeared thickened, with "sandwich vertebrae". (I) Patient 4: observed osteopetrosis in skull base (arrow). (J) Patient 4: lateral skull computerized tomographyshowing increased thickness of skull base (arrow). (K-L) Patient 3: marrow biopsy results showed partial calcification of trabecular bone; HE staining x 40 (K); HE staining x 100 (L).
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case_images: F2
case_images: And marrow biopsy results in patient3 showed partial calcification of trabecular bone (Figure 2).
case_images: PMC10043213_06
case_images: Family pedigrees and genetic sequencings. (A) Pedigree for each patient. (B) Genetic analysis of the gene mutation in family of Patient 1: compound heterozygous variants c. 880T > C(p. F294V) and c. 686C > G(p. S229X) in the CLCN7 gene. Homologous sequences of CLCN7 across species (C). A cross-species alignment of amino acid sequences showed that p. F294V and p. N190S variants occur in a highly conserved region.
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case_images: F3
case_images: And each patient the variants are inherited from their parents (Figure 3).