[Coffin-Lowry syndrome. Description of a clinical case].
A case of Coffin-Lowry syndrome is reported. Severe mental retardation is associated with characteristic craniofacial anomalies, short stature and "soft hands". X-linked inheritance is supposed.
Venura
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Clinica Pediatrica Università di Modena, Italia.
Ferrari
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P
Benci
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E
Grando
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A
D000015:Abnormalities, Multiple; D001827:Body Height; D002675:Child, Preschool; D005147:Facial Bones / Q000002:abnormalities*; D006228:Hand Deformities, Congenital; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D010641:Phenotype; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome
La sindrome di Coffin-Lowry descrizione di un caso clinico.