Short stature, myopia, severe developmental delay, and peculiar facial appearance in two brothers: A new syndrome?

We report on 2 brothers with short; stature, microcephaly, myopia, retarded osseous maturation, severe developmental delay, and minor anomalies includ ing temporal narrowing, periorbit;al fullness, full cheeks ill infancy, and protruding lower lip. Both brothers and their parents had normal chromosom es. Fluorescence in situ hybridization with probes from all (sub-)telomeric chromosomal regions excluded a structural rearrangement involving telomeri c segments, Because the pattern of congenital abnormalities is not like tha t of any well-known multiple congenital anomaly/mental retardation syndrome , we suggest a previously undescribed syndrome of autosomal recessive or X- linked inheritance. (C) 1999 Wiley-Liss, Inc.