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Journal of Medical Genetics

Publication date: 1988-07-01
Volume: 25 Pages: 498 -
Publisher: BMJ Publishing Group

Author:

Fryns, Jean-Pierre
Moerman, Philippe

Keywords:

Facial Bones, Humans, Infant, Newborn, Male, Micrognathism, Skull, Syndrome, Thyroid Gland, Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, 06 Biological Sciences, 11 Medical and Health Sciences, 3105 Genetics, 3202 Clinical sciences

Abstract:

In the November 1987 issue of this journal, Young and Simpson presented a female infant with abnormal facies (microcephaly, blepharophimosis, small, low set, posteriorly rotated ears, bulbous nose, carp shaped mouth, and micrognathia), congenital heart abnormalities (large atrial and ventricular septal defects), congenital hypothyroidism, and severe global retardation. We have observed a male newborn with a similar pattern of malformations (figs. 1 and 2).