case_images: PMC10822947_01
case_images: Family pedigree showing multi-level consanguinity. V:1 is the proband who was the first child of a consanguineous marriage, where her parents were first cousins (IV:4 and IV:5). The maternal grandparents (III:3 and IV:9) were third cousins.
case_images: fgene-14-1286489-g001.jpg
case_images: PMC10822947_01_fgene-14-1286489-g001.jpg
case_images: F1
case_images: She was the first child (V:1, see Figure 1) of a consanguineous union, where her parents were first cousins.
case_images: PMC10822947_02
case_images: PMC10822947_03
case_images: Clinical course and diagnostic timeline. *ELCCS, emergency lower C-section; UMMC, University Malaya Medical Centre; NICU, Neonatal Intensive Care Unit; IUGR, intrauterine growth restriction; T2DM, type 2 diabetes mellitus; ICA, islet cell cytoplasmic autoantibodies; GADA, glutamic acid decarboxylase autoantibodies; IA-2A, insulinoma-associated-2 autoantibodies; IAA, insulin autoantibodies; LH, high luteinizing hormone; FH, follicle-stimulating hormone; CDR, cup-to-disc ratio; MRI: magnetic resonance imaging; ECHO, echocardiogram; US, ultrasound; NCS, nerve conduction study; EMG, electromyography; FA, Fanconi anemia; SNP: CNV, copy number of variant; POI, primary ovarian insufficiency; WES, whole exome sequencing; DB, Dennis Brown; CTEV, congenital talipes equino varus; y.o, years old; m.o, month old.
case_images: fgene-14-1286489-g002.jpg
case_images: PMC10822947_03_fgene-14-1286489-g002.jpg
case_images: F2
case_images: Figure 2 shows the clinical course and diagnostic timeline for 15 years.
case_images: Evolving phenotype of the patient over 15 years. Photographs of the patient at 2 years old (images (A-C)), at 6 years old (images (D-F)), and at 14 years old (images (G-I)). Images (A,B), (D,E), and (G,H) show diffuse alopecia, brachymicrocephaly, down-slanting of palpebral fissures, hypertelorism, hypoplastic nasal alae, bilateral low-set and simple ear, malar hypoplasia, and micrognathia. Images (C,F,I) show fixed flexion deformities of both her knees.
case_images: fgene-14-1286489-g003.jpg
case_images: PMC10822947_03_fgene-14-1286489-g003.jpg
case_images: F3
case_images: Distinctive features included brachymicrocephaly, diffuse alopecia, down-slanting of palpebral fissures, hypertelorism, hypoplastic nasal alae, bilateral low-set and simple ears, malar hypoplasia, and micrognathia (Figure 3).
case_images: Patient's radiograph at the age of 2 years old. There was a shortened ulnar, with the absence of radius bilaterally, and fusion of the left metacarpal bone. The spine and pelvic bone appeared normal.
case_images: fgene-14-1286489-g004.jpg
case_images: PMC10822947_03_fgene-14-1286489-g004.jpg
case_images: F4
case_images: The spine and pelvic bone appeared normal (Figure 4).