Two unrelated patients with Nicolaides-Baraitser syndrome

We report on two unrelated boys with consistent phenotypic and clinical findings – similar facial dysmorphic signs, sparse scalp hair, short stature, severe mental retardation and an idiopathic epilepsy which is resistant to pharmacotherapy.

Case 1 is a 16-year-old boy. His birth weight was 2500g, length 46cm and OFC 33cm. His psychomotor development was retarded (walking at 2.5 years, no speech development). At the age of 19 months he developed an idiopathic primary generalised epilepsy with grand mal seizures resistant to pharmacotherapy. Clinical examination at the age of 16 years showed facial dysmorphisms with sparse scalp hair, coarse triangular face, flat philtrum, prominent lower lip, large mouth and low set ears. His height was 144cm (-4 SD), weight 31kg, OFC 53cm. He was severely mentally retarded and had no speech. X-ray of the hand showed a retarded bone age, brachydactyly, hypoplastic distal phalanges.

Case 2 is a 13-year-old boy. He was born at term with 2050g birth weight, 45cm length and 33,5cm OFC. His motor and mental development was retarded (walking at 27 months). At 1.5 years he developed a treatment resistant epilepsy. Examination at the age of 13 years revealed short stature 118.5cm (-4 SD), OFC 49cm (-2 SD), dystrophy, sparse hair and a coarse triangular face. He was also severely mentally retarded and had no speech. X-ray of the hand showed a retarded bone age and brachydactyly.

Based on the characteristic dysmorphic facial features, sparse hair, epilepsy, mental retardation and short stature we diagnosed Nicolaides-Baraitser syndrome in both boys.

After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only four more patients were published in the literature up to now. We review the literature of Nicolaides-Baraitser syndrome and propose the important clinical features necessary for diagnosis.