Artículos de revistas
Unknown Syndrome: Abnormal Fades, Hypothyroidism, Postaxial Polydactyly, And Severe Retardation: A Third Patient
Registro en:
Journal Of Medical Genetics. Bmj Publishing Group, v. 26, n. 12, p. 785 - 786, 1989.
222593
10.1136/jmg.26.12.785
2-s2.0-0024331451
Autor
Cavalcanti D.P.
Institución
Resumen
Young and Simpson1 in 1987 and Fryns and Moerman2 in 1988 each reported a case of a new unknown syndrome with hypothyroidism, severe global retardation, and abnormal facies, including microcephaly, blepharo-phimosis, bulbous nose, thin upper lip, low set ears, and micrognathia. A male infant with a similar pattern of malformations and postaxial Polydactyly is reported here. 26 12 785 786 R01-DK-055342; NIH; National Institutes of Health; R01-DK-088383; NIH; National Institutes of Health