This paper illustrates a syndrome of distal limb deficiency and oral defects in two sibs, a moderately mentally retarded man and his mildly retarded sister. Both have microretrognathia, microstomia, normal tongue, and symmetric severe limb deficiencies. This seems to be a previously undescribed syndrome. The nosology of the different orofacial syndromes associated with distal limb deficiencies is discussed.
In this paper we describe two new patients with distal 1 l q monosomy and precisely localize breakpoints using high resolution banding techniques. The findings in these two patients further contribute to the precise localization of the crucial band for 1 Iq monosomy syndrome as being at 1 lq24.1. A very distal 1 lq24.2 deletion in the second patient resulted in a completely different phenotype.
In this paper we report two clinically recognizable chromosomal syndromes, both resulting from isochromosome 18 formation, i.e. trisomy 18q and tetrasomy 18p. The possible mechanisms of the isochromosome formation are discussed and the literature on subject is reviewed.
In this report we describe an apparently new MCA‐MR syndrome with Dandy‐Walker malformation in three severely mentally retarded siblings born to normal, non‐consanguineous parents. In addition, they presented macrocephaly, facial dysmorphism, extreme myopia and brachytelephalangy with short and broad finger‐nails.
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