Autosomal recessive Robinow-like syndrome with anterior chamber cleavage anomalies.
We describe 2 sisters with short stature, mesomelic brachymelia, macrocephaly, hypoplastic genitalia, and anterior chamber cleavage anomalies. Many of their manifestations have been described in individuals with Robinow syndrome; however, the anterior chamber cleavage anomalies seen in both girls, hydrocephalus seen in the younger sister, and apparent autosomal recessive inheritance do not characterize the Robinow syndrome. The syndrome present in these sisters most likely represents a previously undescribed autosomal recessive syndrome.
Saal
H M
HM
Department of Pediatrics, University of Connecticut School of Medicine, Farmington 06032.
Greenstein
R M
RM
Weinbaum
P J
PJ
Poole
A E
AE
D000015:Abnormalities, Multiple / Q000235:genetics*; D000867:Anterior Chamber / Q000002:abnormalities*; D002648:Child; D005260:Female; D005808:Genes, Recessive; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics; D007223:Infant; D017880:Limb Deformities, Congenital; D010641:Phenotype; D013577:Syndrome