Family pedigree and phenotypic features of the patients. (A) Family pedigree indicating consanguinity. Filled symbols represent affected individuals (patients VI.2, VI.3, VI.4). (B) Photographs of patient VI.2 at 11 months, patient VI.3 at 9 years 2 months, and patient VI.4 at 4 years 11 months. Note microphthalmia, beaked nose, and prominent columella. Consent for the publication of images was provided by the patients’ parents. (C) Absolute neutrophil count (ANC) over time for the 3 patients. Shaded blue area represents the normal reference range based on age. The upper limit of normal in the newborn period in our laboratory is 23.5 × 10⁹/L, which is above the range depicted (*). (D) Brain magnetic resonance imaging of patient VI.3 at age 9 months. Note supratentorial volume loss involving the white matter more than the gray matter, ex vacuo ventricular enlargement, and optic nerve hypoplasia. (E) Bone marrow biopsy for patient VI.3 at age 33 days. Reticulin stain, original magnification ×200. Note moderate to severe reticulin fibrosis. Trichrome staining for collagen fibers was not performed. (F) Bone marrow biopsy for patient VI.3 at age 20 months, 1 year after bone marrow transplantation. Reticulin stain, original magnification ×200. Note the reduction in reticulin fibrosis to mild and focal. Trichrome staining for collagen fibers was negative (data not shown). BMT, bone marrow transplantation; DOD, date of death; HSCT, hematopoietic stem cell transplantation.