Deep palmar and plantar creases in costello syndrome
The present case has been published in the Journal of Pediatrics.

A male was born at 39 weeks of gestation, weighing 3670 g. A 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. Cerebral, cardiac, and abdominal ultrasound findings were normal. On the electrocardiogram, a QRS axis −90° with wide QRS was observed, as reported in Noonan syndrome; however, genetic tests for Noonan syndrome were negative.

A study of the HRAS gene was requested, confirming the diagnosis of Costello syndrome. Two months later, he was noted to have hypertrophic cardiomyopathy with pulmonary valvular stenosis.

Source: https://pxmd.co/0s3i5
1 share
Like
Comment
Share