Macrocephaly, facial abnormalities, disproportionate tall stature, and mental retardation--a sib observation.
We report on two brothers with relatively short limbs, macrocephaly, high and narrow forehead, frontal upsweep of hairline, hypotelorism, broad but short ears, straight back, and mild hypermobility of all joints. Both were hypotonic neonatally and had developmental delay and behavior problems. Several of the manifestations were present in the father, too. A literature search failed to uncover any similar case.
Bakker
H D
HD
Children's Hospital Het Emma Kinderziekenhuis/AMC, Academic Medical Centre, University of Amsterdam, The Netherlands.
Hennekam
R C
RC
D000015:Abnormalities, Multiple / Q000473:pathology*; D001827:Body Height; D002648:Child; D005145:Face / Q000002:abnormalities*; D006257:Head / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology*; D008297:Male; D009679:Nuclear Family