An identical pattern of malformations was found in two brothers both having microcephaly and severe developmentaldelay.
An identical pattern of malformations was found in two brothers both having microcephaly and severe developmentaldelay. Additionally, they had hypotelorism, epicanthic folds, and convergent strabismus. There was shortening of eitherthe radius or the tibia and shortening of the ®rst metacarpals. Persistently dorsally ?exed ®ngers and toes were noted, allof which are unusually long. Both boys had a high-pitched voice and were unable to communicate verbally at the age of4.5 years. They both developed short stature. One brother has anal atresia; the other had a pulmonary artery atresia,VSD, ASD, and an over-riding aorta. This apparently new syndrome is possibly an autosomal, or a X-linked recessivetrait.Clin Dysmorphol 10: 33±36 # 2001 Lippincott Williams & WilkinsKeywords: short stature, microcephaly, mental retardation, hig
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