Schinzel acrocallosal syndrome: a variant example of the Greig syndrome?
A 5-month-old male is reported with clinical and radiological findings identical to those present in the Schinzel acrocallosal syndrome. The similarity with the Greig syndrome is discussed and the question is raised whether both syndromes are variant examples of the same autosomal dominant condition.
D000015:Abnormalities, Multiple / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D011596:Psychomotor Disorders / Q000235:genetics*; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014034:Toes / Q000002:abnormalities