A m e r i c a n Journal of Medical Genetics 44:487-491 (1992)
Familia1 Syndrome of Endocrine and Neuroectodermal Abnormalities Karen E. Oerter, Theodore C. Friedman, Hans C. Anderson, and Fernando G. Cassorla Developmental Endocrinology Branch and Human Genetics Branch, Natwnal Znstitute of Child Health and Human Development, National Znstitutes of Health, Bethesda, Maryland
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 11diabetes mellitus with elevated insulin levels, mild mental retardation, sensori-neural deafness, a n d 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 a n d neuroectodermal abnormalities. O 1992 Wiy-Liss, inc.
females, diabetes mellitus with moderately high levels of insulin, mild mental retardation, sensori-neuraldeafness, and alopecia without pili torti.
Received for publication January 10, 1992; revision received April 6, 1992. Address reprint requests to: Dr. Karen Oerter, Building 10, Room 10N262, National Institutes of Health, Bethesda, Maryland 20892.
Patient 3 This patient was the 18-year-old-brotherof patients 1 and 2. His history and physical findings were also similar to those ofhis sisters; his height was 156cm (
Familia1 Syndrome of Endocrine and Neuroectodermal Abnormalities Karen E. Oerter, Theodore C. Friedman, Hans C. Anderson, and Fernando G. Cassorla Developmental Endocrinology Branch and Human Genetics Branch, Natwnal Znstitute of Child Health and Human Development, National Znstitutes of Health, Bethesda, Maryland
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 11diabetes mellitus with elevated insulin levels, mild mental retardation, sensori-neural deafness, a n d 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 a n d neuroectodermal abnormalities. O 1992 Wiy-Liss, inc.
females, diabetes mellitus with moderately high levels of insulin, mild mental retardation, sensori-neuraldeafness, and alopecia without pili torti.
Received for publication January 10, 1992; revision received April 6, 1992. Address reprint requests to: Dr. Karen Oerter, Building 10, Room 10N262, National Institutes of Health, Bethesda, Maryland 20892.
Patient 3 This patient was the 18-year-old-brotherof patients 1 and 2. His history and physical findings were also similar to those ofhis sisters; his height was 156cm (
