Autosomal recessive severe dwarfism in a Sicilian girl: A new form of osteodysplastic primordial dwarfism?

✍ Scribed by Corsello, Giovanni; Albanese, Achille; Piccione, Maria; Giuffrè, Mario; Opitz, John M.

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 414 KB
• Volume: 66
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19961218)66:3<265::aid-ajmg5>3.0.co;2-o

✦ Synopsis

A new type of osteodysplastic primordial dwarfism is delineated in a 5-year-old female child with severe growth retardation of prenatal onset, gross skeletal changes, a non-Seckel facial phenotype, and presumed autosomal recessive inheritance.