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Δευτέρα 25 Ιουνίου 2018

Deep Palmar and Plantar Creases in Costello Syndrome

A male was born at 39 weeks of gestation, weighing 3670 g. Prenatal ultrasound scan showed severe polyhydramnios, requiring amniodrainage. A normal 46XY karyotype was obtained by amniocentesis. On examination, he had macrocephaly, with coarse facial features (broad anterior fontanelle, prominent forehead, bulbous nose, wide mouth), rhizomelic shortening of limbs, and ulnar deviation of the hands, with deep palmar and plantar creases (Figure, A and B). He developed respiratory distress syndrome, which required noninvasive mechanical ventilation.

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