A familial syndrome of short stature associated with facial dysplasia and genital anomalies

MeSH terms

• Adolescent
• Adult
• Body Height*
• Bone Development
• Child
• Child, Preschool
• Craniofacial Dysostosis / genetics*
• Female
• Growth Disorders / genetics
• Growth Hormone / therapeutic use
• Hernia, Inguinal / genetics
• Humans
• Intelligence
• Karyotyping
• Male
• Nose / abnormalities
• Pedigree
• Puberty
• Scrotum / abnormalities*
• Sex Chromosomes
• Testis / abnormalities*
• Turner Syndrome / diagnosis