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Apparently new MCA/MR syndrome in sibs with cleft lip and palate and other facial, eye, heart, and intestinal anomalies

✍ Scribed by Kapur, S. ;Toriello, H. V.


Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
310 KB
Volume
41
Category
Article
ISSN
0148-7299

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✦ Synopsis


W e report on a sister and brother with severe mental retardation, bulbous tip of the nose, long columella, cleft lip and palate, heart and intestinal anomalies, and growth retardation. This appears to be a previously unreported, autosomal recessive condition, given high resolution prometaphase chromosomes are normal.


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✍ McPherson, Elizabeth; Clemens, Michele πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 18 KB πŸ‘ 2 views

A chromosomally normal brother and sister shared a lethal pattern of anomalies including bilateral cleft lip and palate, hypertelorism, flat facial profile, flat occiput, complex congenital heart defect, and malrotation of the intestine. The male was large for gestational age, while his sister was n