Kenny syndrome: description of additional abnormalities and molecular studies

BERGADÁ I; SCHIFFRIN A; ABU SRAIR H; KAPLAN P; DORNAN J; GOLTZMAN D; HENDY GN

HUMAN GENETICS.

SPRINGER

Lugar: Berlin; Año: 1988

0340-6717

An 18-month-old girl presented with clinical manifestations of Kenny syndrome including growth retardation, ophthalmologic abnormalities, a persistent open anterior fontanel, dysmorphic facies, anemia, radiologic skeletal abnormalities, and severe hypoparathyroidism. Analysis of restriction patterns of DNA with human parathyroid hormone (PTH) DNA probes revealed no gross abnormalities of the PTH gene that could contribute to the hypoparathyroidism. In addition to the previously described characteristics of the syndrome, hypoplastic nails, persistent neutropenia, abnormal T cell function and neonatal liver disease all occurred and may be additional manifestations of Kenny syndrome, requiring diagnostic or therapeutic consideration