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Caudal deficiency and asplenia anomalies in sibs

✍ Scribed by Fullana, Ana ;Garcia-Frias, Enrique ;Martinez-Frias, M. Luisa ;Razquin, Socorro ;Quero, José ;Reynolds, James F.

Publisher
John Wiley and Sons
Year
1986
Tongue
English
Weight
466 KB
Volume
25
Category
Article
ISSN
0148-7299

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W e report on facial anomalies including round face, high forehead, flat philtrum, apparently low-set ears, and short neck in 4 unrelated patients with mitochondrial respiratory enzyme deficiency. Pre-and postnatal growth retardation with microcephaly, brachydactyly, and hypoplasia of distal and mid