Two retarded male cousins with odd facies, hypotonia, and severe constipation: possible examples of the X linked FG syndrome
AUTOR(ES)
Burn, J
RESUMO
A boy was referred in 1977 for investigation of global retardation and hypotonia. Minor dysmorphic features and intractable constipation were noted. In 1981 the mother's sister had a son with a similar phenotype. This is probably the X linked Opitz-Kaveggia or FG syndrome.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1049007Documentos Relacionados
- Unknown syndrome. A possible new X linked retardation syndrome: dysmorphic facies, microcephaly, hypotonia, and small genitalia.
- Arch fingerprints, hypotonia, and areflexia associated with X linked mental retardation.
- An unstable ring chromosome in a female infant with hypotonia, seizures, and retarded development.
- Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation.
- Unknown syndrome: abnormal facies, hypothyroidism, and severe retardation: a second patient.