[source]
pmid = PMID:24800029
title = A Novel Missense Mutation in BRAF Caused Cardio-Facio-Cutaneous Syndrome
[diagnosis]
disease_id = OMIM:115150
disease_label = Cardiofaciocutaneous syndrome
[text]
We present here a 10-year-old boy who was referred to the department of Medical Genetics for dysmorphological evaluation
because of severe developmental delay, short stature and dysmorphic features. He was the third child of healthy, non-consanguineous Turkish parents.
His parents and two siblings were healthy. He was born at term after an uneventful pregnancy. His birth weight was 3000 g (10-25th centile),
height 50 cm (50th centile). His developmental milestones were globally delayed.

At the age of 10, his height was 87.5 cm (<3rd centile), his weight 15300 g (10-25 centile) and head circumference 49,5 cm (<3rd centile).
Physical examination revealed coarse facial appearance, low-set ears, sparse eyebrows, bilateral ptosis, down-slanted palpebral fissures,
epicanthal folds, bulbous nose, prominent philtrum, high-arched palate, thick lower lip, pectus excavatum, clinodactyly of fifth fingers (Fig. 1a).
His hair was curly. Two cafe-au-lait spots were also noted. A hypertrophic cardiomyopathy was detected by echocardiography.
On neurological examination, he had severe mental retardation (IQ below 50) with poor social interaction at the age of 10.
Myopia was detected on ophthalmical examination. Fundus examination and visual evoked potentials were normal. Laboratory tests were normal.
Magnetic resonance imaging showed cortical atrophy of the brain. Abdominal ultrasonography, X-ray of vertebral column and extremities were normal.
A hearing test was normal. His karyotype was 46 XY.