title: Short stature, myopia, severe developmental delay, and peculiar facial appearance in two brothers: a new syndrome?
abstract: We report on 2 brothers with short stature, microcephaly, myopia, retarded osseous maturation, severe developmental delay, and minor anomalies including temporal narrowing, periorbital fullness, full cheeks in infancy, and protruding lower lip. Both brothers and their parents had normal chromosomes. Fluorescence in situ hybridization with probes from all (sub-)telomeric chromosomal regions excluded a structural rearrangement involving telomeric segments. Because the pattern of congenital abnormalities is not like that of any well-known multiple congenital anomaly/mental retardation syndrome, we suggest a previously undescribed syndrome of autosomal recessive or X-linked inheritance.
authors.affiliation: Institute of Medical Genetics, University of Zürich, Zürich, Switzerland. Sibylla@medgen.unizh.ch
authors.forename: S
authors.initials: S
authors.lastname: Achermann
authors.forename: R
authors.initials: R
authors.lastname: Largo
authors.forename: D
authors.initials: D
authors.lastname: Kotzot
authors.forename: M
authors.initials: M
authors.lastname: Riegel
authors.forename: A
authors.initials: A
authors.lastname: Schinzel
mesh_terms: D000328:Adult; D001827:Body Height; D001835:Body Weight; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007585:Jews; D008297:Male; D018895:Microsatellite Repeats; D009216:Myopia / Q000235:genetics*; D009679:Nuclear Family; D011044:Poland / Q000208:ethnology; D013557:Switzerland; D013577:Syndrome