Differential diagnosis of genital ambiguity in the newborn.
Explore the source record for details and available documents.
Biomedical subjects
Publications and source records attributed to R L Summitt.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
The cases of three patients with concurrent Down syndrome and hypothyroidism are reported. Review of these and 12 similar cases from the literature suggests an association between the Down syndrome and thyroid autoimmune disease. Studies of autoimmune thyroid antibodies in families of patients with the Down syndrome are also reviewed. Several questions as yet unanswered regarding the possible relationship of these studies to cases of concurrent Down syndrome and hypothyroidism are mentioned.
The Rieger syndrome is characterized by mesoectodermal dysplasia of the iris and cornea, dental defects, in some cases short stature, abnormal external ears, hypertelorism, arachnodactyly, polydactyly, scoliosis, kyphosis, imperforate anus, umbilical hernia, myopathy and in a few cases mental retardation. This report presents a sporadic case of the Rieger syndrome, the findings in which include the characteristic ocular anomalies, shortness of stature, mental retardation, absent dental defects and a peculiar, heretofore unobserved, myopathy.
This report concerns an apparently sporadic case of hypohidrotic ectodermal dysplasia with associated congenital anomalies.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.