[source]
pmid = PMID:30364145
title = First Replication of the Involvement of OTUD6B in Intellectual Disability Syndrome With Seizures and Dysmorphic Features
[diagnosis]
disease_id = OMIM:617452
disease_label = Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
[text]
The proband is a 6-year-old female, second-born of non-consanguineous healthy parents. She was born by cesarean section delivery at 38 weeks of gestation,
after a pregnancy complicated by intrauterine growth restriction (IUGR). Her birth weight was 2,095 g. A Tetralogy of Fallot was diagnosed soon after birth,
requiring cardiac surgery intervention at the age of 6 months.
During the first 2 months, she showed feeding difficulties, associated with gastroesophageal reflux.
Moreover, she also had a neurodevelopmental delay. She sat independently at 11 months, walked at 18 months, and pronounced her first words at 2 years.
Due to the occurrence of palpebral ptosis, a Duane syndrome was suspected. Nevertheless, brain MRI was normal,
occipitofrontal circumference was 47.8 cm (z-score −1.5).
Main dysmorphic facial features included: large ears, long smooth philtrum, thin upper lip, high arched palate, hanging columella,
narrow long face, wide forehead, sunken eyes, and hypotelorism (Figure 1A).
The patient also has finger abnormalities, i.e., broad thumbs and first toes, and fetal pads (Figure 1A).
At 5 years, tonic-clonic seizures occurred, thus valproate treatment was started.
At the latest neurological evaluation, at 6 years of age, she has mild intellectual disability, mild motor difficulty, and episodic behavioral disorders.

