Short stature, mental retardation and multiple dysmorphisms in two unrelated females: one or two different syndromes or none?
We report on two unrelated mentally retarded girls aged 14 and 24 years with short stature and strikingly similar craniofacial dysmorphisms. Whether they share the same entity or different unknown syndromes remains an open question.
Pfeiffer
R A
RA
Institut für Humangenetik, Friedrich-Alexander Universität, Erlangen-Nürnberg, Germany.
Kapferer
L
L
Tietze
H U
HU
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome