Two unrelated children with developmental delay, short stature and anterior chamber cleavage disorder, cerebellar hypoplasia, endocrine disturbances and tracheostenosis: a new entity?
Two unrelated children with developmental delay, anterior chamber-cleavage disorder, proportionate short stature and striking similarity in facial appearance appear to have an identical syndrome. Peters' plus syndrome has to be considered but additional abnormalities not described in this syndrome and their apparently different facies may be evidence for a hitherto undescribed condition. The further malformations both children have in common are cerebellar hypoplasia, hypothyroidism, tracheostenosis and dislocated hips.
Jung
C
C
Department of Human Genetics, University of Freiburg, Germany.
Wolff
G
G
Back
E
E
Stahl
M
M
D000015:Abnormalities, Multiple / Q000473:pathology*; D000867:Anterior Chamber / Q000002:abnormalities*; D002531:Cerebellum / Q000002:abnormalities*; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000150:complications*; D004700:Endocrine System Diseases / Q000150:complications*; D005260:Female; D006130:Growth Disorders / Q000150:complications*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D013577:Syndrome; D014135:Tracheal Stenosis / Q000150:complications*