The main clinical features of MFRG reported in literature include:
• Facial dysmorphism:
o Eyes: Arched eyebrows, shallow supraorbital ridges, hypertelorism, upslanting palpebral fissures
o Nose: depressed nasal bridge
o Mouth: high-arched palate, cleft lip/palate
o Other: narrow forehead, micrognathia/retrognathia
• Unilateral renal agenesis
• Ambiguous genitalia
• Brain anomalies:
o Microcephaly
o Corpus callosum agenesis/dysgenesis
o Lissencephaly
o Seizures
• Cardiac anomalies:
o Ventricular septal defect
o Atrial septal defect
o Patent ductus arteriosus
• Skeletal anomalies:
o Contractures of upper and lower extremities
o Overlapping fingers
o Bilateral talipes equinovarus
o Preaxial/Postaxial polydactyly
Other:
• Hypotonia
• Hypoplastic right ventricle
• Intrauterine growth retardation
CTU2