Mental retardation, facial anomalies, brachydactyly, cerebral angiomas, femoral nucleus necrosis: a new entity or Hall-Riggs syndrome?
We report on a 4-year-old boy with mental retardation, facial and skeletal anomalies, cerebral angiomas, femoral nucleus necrosis, mild biochemical abnormalities. This complex of features resembles the Hall-Riggs syndrome but could represent a novel syndrome.
Ficcadenti
Anna
A
Institute of Maternal-Infantile Sciences. Polytechnic University of Marche, Ancona, Italy.
Santoro
Lucia
L
Petroni
Valeria
V
Carini
Cecilia
C
Gabrielli
Orazio
O
D001932:Brain Neoplasms / Q000175:diagnosis* / Q000235:genetics; D020787:Central Nervous System Venous Angioma / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics; D019066:Facies; D005269:Femur / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D010020:Osteonecrosis / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome