European Journal of Human Genetics - Wolf–Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.

Juberg-Marsidi syndrome (JMS) is a rare, ... At birth, they all had low growth characteristics, such as a small head circumference, a delayed bone age, and dysmorphic facial traits.

Establishing a diagnosis of 22q11.2 deletion syndrome is important for both genetic counselling and long-term management of associated medical, surgical and psychiatric conditions.1, 3, 4 Clinicians ...

Sood et al., in 2018 presented a case of a child with pancreatic insufficiency and Johanson-Blizzard syndrome-like facial abnormalities.Fetal ultrasound revealed ambiguous genitalia in a 21-year ...

Genetic syndromes often involve craniofacial malformations. We have investigated whether a computer can recognize disease-specific facial patterns in unrelated individuals. For this, 55 ...

Velocardiofacial syndrome, (VCFS, coming from the Latin words velum for palate, cardia for heart and facies for face) is a very common congenital syndrome, affecting up to 1 in every 2,000 newborns.

Body dysmorphic disorder (BDD) is characterized by a morbid preoccupation with an imagined or real physical flaw. This preoccupation leads to compulsive checking and questioning, inappropriate ...

There are a variety of conditions that have obsessive compulsive disorder qualities that are quite similar to OCD such as PANDAS, body dysmorphic disorder (BDD), hoarding disorder, trichotillomania, ...

Key to diagnosing foetal alcohol syndrome is an assessment of certain facial features. A 3D facial scan is expensive but 2D images may offer a solution.

Pop artist Justin Bieber was diagnosed with Ramsay Hunt syndrome, a rare neurological disorder that can cause paralysis of the facial nerve, hearing loss, a rash and other symptoms. The 28-year ...

We described several novel neurobehavioral and neurodevelopmental disorders and identified the causative genes, e.g. PSMD12 in the Stankiewicz-Isidor syndrome (MIM 617516), BPTF in Neurodevelopmental ...

Ramsay Hunt syndrome can also cause hearing loss on the side of the face affected. As in Bieber’s case, it can also cause a weakness, facial droop or paralysis on the side of the face affected ...