case_images: PMC11789910_01
case_images: Phenotypic picture of the skeletal deformities. (A) Fixed joint contracture. (B) Micrognathia withorogastric tube in place. (C) Bowed short extremities. (D) Camptodactyly in fingers and toes.
case_images: medi-104-e41342-g001.jpg
case_images: PMC11789910_01_medi-104-e41342-g001.jpg
case_images: F1
case_images: Physical examination revealed generalized hypotonia, hyporeflexia, dysmorphic features including fixed joint contractures (Fig. 1A) micrognathia (Fig. 1B), short neck, and camptodactyly with overlapping fingers and toes (Fig. 1D). The infant had short, bowed limbs, and a birth length of 45.5 cm (Fig. 1C).
case_images: Radiologic findings ot the patient. (A) Bilateral periventricular hypodense areas. (B) Bilateral short bowed long bones. (C) Skeletal survey with short bowed long bones.
case_images: medi-104-e41342-g002.jpg
case_images: PMC11789910_01_medi-104-e41342-g002.jpg
case_images: F2
case_images: The cranial US was normal, but brain computed tomography showed bilateral periventricular hypodensities (Fig. 2A). A skeletal survey confirmed bilateral symmetrical shortening and bowing of long bones, with cortical thickening, wide metaphases, and decreased bone density (Fig. 2B and C).
case_images: Karyotyping was performed that revealed a male chromosome complement without numerical or structural chromosomal anomalies.
case_images: medi-104-e41342-g003.jpg
case_images: PMC11789910_01_medi-104-e41342-g003.jpg
case_images: F3
case_images: Karyotyping showed no chromosomal abnormalities (Fig. 3).