Familial syndrome of endocrine and neuroectodermal abnormalities

✍ Scribed by Oerter, Karen E. ;Friedman, Theodore C. ;Anderson, Hans C. ;Cassorla, Fernando G.

• Publisher: John Wiley and Sons
• Year: 1992
• Tongue: English
• Weight: 517 KB
• Volume: 44
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320440421

✦ Synopsis

Abstract

We report on a previously undescribed combination of endocrine and neuroectodermal abnormalities in four sibs from Burma. These abnormalities include low growth hormone levels in response to provocative stimuli, delayed puberty associated with prepubertal levels of gonadotropins in the males and pubertal levels of gonadotropins in the females, type II diabetes mellitus with elevated insulin levels, mild mental retardation, sensori‐neural deafness, and alopecia without pili torti. They also had a characteristic facial appearance and fleshy hands and feet. This family appears to have a previously undescribed combination of endocrine and neuroectodermal abnormalities. © Wiley‐Liss, Inc.