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• W137166804 abstract "Rhizomelic chondrodysplasia punctata (RCDP), is a genetically heterogeneous, autosomal recessive disorder of peroxisomal metabolism in which patients have mutations of the PEX7 gene that is located on chromosomal 6q22-24 (1). It is characterized by proximal shortening of the limbs, developmental delay, punctate calcifications in cartilage with epiphyseal and metaphyseal abnormalities with multiple joint contractures, coronal clefts of the vertebral bodies, cataracts, usually present at birth or appear in the first few months of life and early lethality (4, 5). Congenital heart defects may be associated and atrial septal defect and ventricular septal defect are the most reported defects. Here, we report a newborn diagnosed as RCDP co-occurring with tetralogy of Fallot and according to our literature review, no case of RCDP associated with tetralogy of Fallot has been published. We report the case of a female newborn, the first child of second degree consanguineous parents with no family history of genetic diseases and immunological or skeletal disorders. Her mother was a primigravida and 18 years old, and her father was 24 years old. The pregnancy was uncomplicated, natal and postnatal histories were unremarkable. The infant was delivered at 40 weeks' gestation by spontaneous vaginal delivery. Anthropometric evaluation: weight of 1800 g (below the third percentile), stature of 48 cm (10-25 percentiles), cephalic perimeter of 30.5 cm (below the third percentile). On physical examination, her anterior and posterior fontanelles were open. Cardiopulmonary auscultation revealed 2/6 intensity systolic heart murmur at mesocardiac focus, pleuropulmonary fields clear. Other physical features included craniofacial dysmorphism with frontal bossing, saddle nose and bilateral cataracts. The limbs showed flexion deformities at knees and elbows and severe symmetrical rhizomelic shortening. There were skin lesions with a size of lxl cm at both knee medial sides (Fig. 1). On radiolological examination, X-rays of the skeleton showed bilateral cartilage calcifications, most evident at knees and shoulders and metaphyseal enlargement was remarked. Inadequate ossification was observed of the bilateral patellae (Fig. 2). Butterfly vertebra appearance was present at lower vertebraes (Fig. 3). Magnetic resonance imaging showed myelinisation retardation and cavum septum pellicidum anomaly. Hemogram, blood biochemistry, thyroid hormone tests were in normal limits. TORCH-S titers were negative. On echocardiographic examination, sonographic sign consistent with tetralogy of Fallot. Gilbert et al., detected as radiologic finding in 3 infants with rhizomelic chondrodysplasia punctata, coronal clefts dividing all or most of the thoracic and lumbar vertebral bodies, bilateral shortness of humeri, epiphyseal punctate calcifications of femur and humerus, delay at bone mineralisation (3). …" @default.
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• W137166804 date "2010-01-01" @default.
• W137166804 modified "2023-09-23" @default.
• W137166804 title "Chondrodysplasia punctata associated with tetralogy of Fallot in a newborn infant." @default.
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