Table 1 Phenotypic comparison between our patient and other reported patients with BRPS
Phenotype | Our Patient | Bainbridge et al. [1]. 4 patients | Dinwiddie et al. [2]. 1 patient | Srivastava et al. [4]. 3 patients | Hori et al. [3]. 1 patient | Balasubramanian et al. [17]. 12 patients | Kuechler et al. [18]. 6 patients |
|---|---|---|---|---|---|---|---|
Clinical | |||||||
Feeding problems | + | + | + | + | + | 9/12 | 6/6 |
Failure to thrive | + | + | + | + | + | 3/6 | |
Short stature | + | + | ND | + | 2/12 | 2/6 | |
IUGR | − | 3/4 | + | 2/3 | + | − | |
Craniofacial | |||||||
Trigonocephaly | − | 1/4 | + | 1/3 | + | ND | ND |
Microcephaly | − | 2/4 | + | − | + | + | 1/6 |
Scaphocephaly | + | − | − | − | − | + | ND |
Palate | High arched | 1/4 | ND | ND | ND | High arched (9/12) | High arched (5/6) |
Prominent forehead | + | 2/4 | ND | 1/3 | ND | + | 5/6 |
Prominent eyes | − | − | + | − | ND | ND | ND |
Palpebral fissures | downslanting | upslanting | downslanting (2/3) | − | downslanting-10/12 Upslanting-2/12 | downslanting | |
Nasal bridge | long | − | depressed | Broad (1/3) | depressed | long, prominent | 6/6 (prominent columella) |
Low set ears | + | 1/4 | NA | 1/3 | − | + | ND |
Posteriorly rotated ears | Cupped ears | 2/4 | + | + | − | + | ND |
Anteverted nares | − | + | + | 1/3 | − | ND | 5/6 |
Small chin | + | ND | ND | 2/3 | + | + | ND |
Ophthalmic | |||||||
Strabismus | + | ND | ND | 1/3 | + | 7/12 | 5/6 |
Astgmatism | myopia | ND | Myopia (1/3) | Hyperopia (1/3) | myopia | ND | |
Neurological | |||||||
Developmental delay | + | + | + | + | + | 12/12 | 6/6 |
Intellectual deficit | + | + | + | 2/3 | + | 12/12 | 5/6 |
Seizures | − | − | + | 1/3 | 3/12 | 2/6 | |
Autism | + | NA | NA | NA | + | 9/12 | not formally diagnosed |
Other Features | |||||||
large fontanelle | + | 1/4 | ND | ND | ND | ND | ND |
Undescended testes | + | 1/4 | ND | ND | ND | ND | ND |
Chronic constipation | + | ND | ND | 1/3 | ND | ND | ND |