Radio-ulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference12 articles.
1. Radio-ulnar synostosis in Williams syndrome
2. Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: Delineation of a new entity and review of lethal forms of multiple pterygium syndrome
3. Unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance in sibs: A new syndrome
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1. The third patient with Tsukahara-Azuno-Kaiji syndrome with type A1 brachydactyly, dwarfism, microcephaly, scoliosis, intellectual disability, ptosis, and hearing loss;Radiology Case Reports;2022-01
2. A family with radio-ulnar synostosis, scoliosis, and thick vermilion of lips: A novel syndrome or variant of Giuffrè-Tsukahara syndrome?;American Journal of Medical Genetics Part A;2012-07-11
3. Giuffrè-Tsukahara syndrome: Evidence for X-linked dominant inheritance and review;American Journal of Medical Genetics Part A;2010-07-15
4. Clinical delineation of Giuffrè–Tsukahara syndrome: Another case with microcephaly and radio-ulnar synostosis with apparent X-linked semi-dominant inheritance;American Journal of Medical Genetics Part A;2008
5. Additional case of Tsukahara's syndrome or new syndrome: Further delineation of the association of microcephaly and radio-ulnar synostosis;American Journal of Medical Genetics Part A;2005-01-15
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