Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation.
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.
Department of Child Health, Leicester Royal Infirmary.
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ID
Young
K
K
Simpson
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D005145:Face / Q000002:abnormalities*; D006330:Heart Defects, Congenital / Q000175:diagnosis*; D006801:Humans; D007037:Hypothyroidism / Q000175:diagnosis*; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis*; D008297:Male; D013577:Syndrome