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Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation.

1987; BMJ; Volume: 24; Issue: 11 Linguagem: Inglês

10.1136/jmg.24.11.715

1468-6244

I D Young, K.J. Simpson,

Tracheal and airway disorders

We present a female infant with (1) abnormal facies: microcephaly, blepharophimosis, small, low set, posteriorly rotated ears, bulbous nose, carp shaped mouth, micrognathia; (2) congenital heart abnormalities: large atrial and ventricular septal defects; (3) congenital hypothyroidism; (4) severe global retardation.