论文信息 - Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation.

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.

I. Young | K. Simpson | I D Young

[1] I. Hughes,et al. Congenital anomalies associated with hypothyroidism. , 1986, Archives of disease in childhood.

[2] J. Fryns,et al. Mental retardation with pterygia, shortness and distinct facial appearance A new MCA/MR syndrome , 1985, Clinical genetics.

[3] R M Winter,et al. A computerised data base for the diagnosis of rare dysmorphic syndromes. , 1984, Journal of medical genetics.

[4] V. D. Der Kaloustian,et al. Brief clinical report and review: the Marden-Walker syndrome. , 1982, American journal of medical genetics.