Further delineation of the ear, patella, short stature syndrome (Meier-Gorlin syndrome).
Two daughters of phenotypically normal parents are described with severe proportional dwarfism with microcephaly, peculiar craniofacial anomalies, microtia, absent patellae, joint hyperextensibility, and other anomalies. Intrafamilial variability is minimal. This combination of anomalies has many similarities to the six cases previously described with the Ear, Patellae, Short stature syndrome (Meier-Gorlin syndrome), which is distinguished by the triad of microtia, absent patellae and growth retardation. Autosomal recessive inheritance is strongly suggested by the presence of two pairs of affected siblings and the equal sex ratio.
Boles
R G
RG
Department of Genetics, Yale University School of Medicine, New Haven, CT 06510.
Teebi
A S
AS
Schwartz
D
D
Harper
J F
JF
D002675:Child, Preschool; D004423:Ear / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D010329:Patella / Q000002:abnormalities*; D013577:Syndrome