Familial occurrence of Summitt syndrome or a variant example of Carpenter syndrome?
In this report, we describe three sibs presenting an identical malformation syndrome i.e.: acrocephaly, brachydactyly, prominent metopic ridge, broad depressed nasal bridge, narrow maxillae, obesity and normal intelligence. We discuss the relationship between this combination of clinical signs and symptoms most compatible with the diagnosis of Summitt syndrome and the Carpenter syndrome.
Pierquin
G
G
Centre de Génétique-ULB, Brussels, Belgium.
Seligmann
R
R
Van Regemorter
N
N
D000168:Acrocephalosyndactylia / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005146:Facial Asymmetry / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009765:Obesity / Q000235:genetics; D012886:Skull / Q000002:abnormalities; D013577:Syndrome