Table 2.

Table summarizing features associated with the BDMR syndrome.

ADDITIONAL FEATURES ASSOCIATED WITH THE BDMR PHENOTYPE
Typical facial dysmorphisms (most cases) Prominent forehead (pt 2) Arched eyebrows Upslanting palpebral fissures Midface hypoplasia (pt 2) Depressed nasal bridge (pt 2) Thin upper lip (pt 2) Anteverted lobules (pt 2)
Major malformations (~30% of pts) Congenital heart malformations (i.e., ventricular septal defects, aortic coarctation or hypoplasia) Gastrointestinal and renal anomalies (i.e., pyloric stenosis, duodenal or esophageal atresia) Genitourinary malformations (i.e., horseshoe kidney, hypospadias, hypoplastic gonads, bifid uterus and undescended testes) Central nervous system malformations (i.e., hydrocephaly, holoprosencephaly) Congenital skeletal malformations (i.e., hip dislocation, fused cervical vertebrae, fractures, arched or cleft palate) (pt 2)
Other features and late-onset abnormalities Sparse or thin hair Eczema Recurrent otitis media Sinusitis and lower respiratory infections Joint laxity (pt 2) Umbilical and inguinal hernias Articulation dislocation (pt 2)
Neurodevelopmental and behavioral traits (frequently reported) Hypotonia improving with time Seizure disorder unrelated to brain malformation Epilepsy Complex febrile seizures (pt 3) Autistic features (i.e., repetitive behaviors, a deficit in communication and social interaction, stereotypic movements, intermittent aggression, hyperactivity, attention deficit, obsessive-compulsive disorder and sleep disturbances) (pt 1 & 3)

Features observed in our patients with deletions are reported by the patient's number in brackets.