[source]
pmid = PMID:27180139
title = A novel nonsense GPSM2 mutation in a Yemeni family underlying Chudley-McCullough syndrome
[diagnosis]
disease_id = OMIM:604213
disease_label = Chudley-McCullough syndrome
[text]
Case 1: The proband (IV.1, Fig. 1) was a 12-year old boy born to consanguineous parents of Yemeni origin.
He was born at term via spontaneous vaginal delivery. At 8-months of age, his parents noted hearing deficit,
which was clinically diagnosed as bilateral severe sensorineural hearing loss. A cochlear implant (CI) was placed in the
right ear at 4 years of age. He was asthmatic, and parents reported an acute exacerbation of asthma once every three months,
requiring salbutamol nebulization. At 3-years of age, he had an episode of bronchopneumonia along with an acute exacerbation
of asthma.
Upon examination, he was found to be an alert and active boy with a thin build. Height and weight measurements were both
around the 3rd centile. He had a triangular face with deep seated eyes, sparse eyebrows and prominent and posteriorly angulated ears
 (Fig. 2A). Syndactyly was noted between the 2nd and 3rd toes bilaterally, and the elbow and knee joints were found to be
 hyperextensible. There were no other clinically abnormal findings, apart from hyperpigmented skin lesions at the suprapubic
 region and the presence of dry scaly palms. Speech delay was moderate. He was able to speak in sentences, but with poor
 articulation. There was also cognitive delay, noted by the inability to tell the time in minutes, or to follow complex commands.
 Brain CT scan revealed a posterior third ventricular cystic lesion, suggestive of an arachnoid cyst, along with
 partial agenesis of the corpus callosum.