Congenital bilateral fibular deficiency with facial dysmorphia, brachydactyly and mental retardation in a girl.
Congenital bilateral fibular deficiency with facial dysmorphia, brachydactyly and mental retardation in which are combined in a syndrome or which do not fit in any of the known syndromes. We report a child with congenital bilateral deficiency of the fibula and an unusual combination of features. The patient, a girl, was born after an uneventful pregnancy at term to young healthy parents. Absent fibulae were noted at birth. At age 4 she was found to have growth retardation with delayed bone age, overlapping, short toes, syndactyly of the toes, clinodactyly of the 5th and 2nd fingers, syndactyly of the three last fingers and facial dysmorphia. Mental retardation was present. Karyotype and laboratory investigations were normal. Differential diagnosis included syndromes with aplasia or hypoplasia of fibula, but none of these syndromes seemed to include the girl's features.
Stoll
C
C
Service de Génétique Médicale, Hopital de Hautepierre, Strasbourg, France.
Alembik
Y
Y
Repetto
M
M
D000015:Abnormalities, Multiple; D005145:Face; D005260:Female; D005360:Fibula / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability; D011859:Radiography; D014034:Toes / Q000002:abnormalities