Male newborn, cesarean section at 38 weeks of gestational age due to complex heart disease; birth weight 2,860 g (p15), length 44 cm (p3), perimeter 33 cm (p 3).
Non-consanguineous mothers with no relevant personal or family history, attended a 19-year-old girl.
At 12 weeks of gestation transventricular bone was found in a greater number of p95 weeks. A karyotype was found in a chorionic villus biopsy which showed a 46, XY long channel echography 185.
At birth, she was hospitalized in a neonatal intensive care unit.
The patient was evaluated with a small axial fold palmitating in which the dysmorphonuclear examination described: microcephalia, low-implant ears with backward rotation, depressed nasal bridge, internal epicanthic frenulum, long rhism
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Echocardiography showed atrioventricular canal, aortic stenosis, hypoplasia of the aortic arch, ductus arteriosus and mild hypoplasia of the right pulmonary artery. Transfontanellar and renal ultrasonography revealed narrow abdominal x-rays with irregular
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The sum of findings allowed the diagnosis of Ellis Van Creveld syndrome.
The patient had an unfavorable outcome and died at 8 weeks of age due to problems secondary to complex heart disease.
