Bainbridge et al. (2013) reported 4 individuals from 4 unrelated families with phenotypic features similar to those of Bohring-Opitz syndrome (605039) but with no specific recognizable syndromic diagnosis. Three of the subjects had similar clinical histories, including severe psychomotor retardation, feeding problems, severe postnatal growth retardation, arched eyebrows, anteverted nares, and ulnar deviation of the hands. The fourth subject also had anteverted nares but had less severe psychomotor retardation and normal growth. No patient had the typical 'BOS posture' of elbow and wrist flexion, or of myopia or trigonocephaly. Only 1 subject had brain MRI, which showed global mild white matter volume loss, secondary brainstem hypoplasia, and bilateral hypoplasia/dysplasia of cerebellar tonsils. MR spectroscopy was normal.

Srivastava et al. (2016) reported 3 unrelated patients with BRPS. All had feeding difficulties necessitating a feeding tube, failure to thrive, hypotonia, and developmental delay with absent speech and poor or absent independent walking. They had variable dysmorphic features, including arched eyebrows, downslanting palpebral fissures, broad nasal bridge with short nose and anteverted nares, low-set ears, and small chin. Brain imaging, performed in 2 patients, showed loss of white matter; 1 patient had a thin corpus callosum.

Balasubramanian et al. (2017) reported 12 unrelated patients with BRPS confirmed by genetic analysis. The patients, who ranged in age from 4 to 22 years, were ascertained from the Deciphering Developmental Disorders (DDD) project. Most patients presented in early infancy with feeding difficulties, poor overall growth, relative microcephaly, and hypotonia. All had delayed psychomotor development with moderate to profound intellectual disability and delayed walking. Two patients were nonambulatory and 9 were nonverbal. Most also had autistic features and 11 were in a special needs school. Three patients had controlled seizures and several had sleep problems. The patients had common, if variable, dysmorphic features, including prominent forehead, narrow head, hypertelorism, down- or upslanting palpebral fissures, strabismus, high-arched eyebrows, long tubular nose, prominent nasal bridge, broad or bulbous nasal tip, low columella, open mouth with everted lower lip, high-arched palate, and crowded teeth. Three patients had a marfanoid habitus with arachnodactyly, tall stature, pes planus, and scoliosis. A few patients had nonspecific minor abnormalities on brain imaging.