S. Achermann et al., Short stature, myopia, severe developmental delay, and peculiar facial appearance in two brothers: A new syndrome?, AM J MED G, 86(5), 1999, pp. 486-491
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.