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Sonogram findings with Brachmann-de Lange syndrome

We present KK, a 32 year old woman, G4 P3, who had a sonogram at 21 weeks of gestation which revealed bilateral ulnar hypoplasia, bilateral radial aplasia, single ray distal digit, single umbilical artery, micrognathia and small right pleural effusion. No movements were noted in the elbows. The humeri appeared normal. The legs appeared normal. Fetal growth, fetal echocardiogram and amniotic fluid volume were normal. Family history was unremarkable for limb abnormalities. There was a maternal second cousin with Trisomy 13 and a paternal first cousin with Turner syndrome. The differential diagnosis based on the sonogram findings of upper limb abnormalities included chromosomal abnormalities, Roberts syndrome, Holt-Oram syndrome, Tabatznick syndrome. Weyers syndrome, TAR syndrome and Baller-Gerold syndrome. Amniocentesis at 33 weeks revealed normal female chromosomes and no evidence of premature separation of the centromeres, as seen in Roberts syndrome. RK was born by spontaneous vertex delivery at 37 weeks by dates; birth weight: 2300 g (2nd centile). length: 44.5 cm (2nd centile) and head circumference: 32.5 cm (2nd centile). Three-vessel cord was reported. RK had micromelia of the arms, bilateral single digital ray, underdeveloped forearms and flexion contractures at 30 degrees were impossible to passively correct. Legs were normal and toes were somewhat small. Ears were lowset. Synophrys was present. Short, upturned nose, long, thin philtrum and thin lips were noted. Short neck, low posterior hairline were present. Nipples were wide spaced and hypoplastic. The phenotype was consistent with Brachmann-de Lange syndrome (MIM# 122470). This is a well-delineated syndrome, which includes limb deformities. RK did not have prenatal growth retardation and she did not have lower limb deformities, which can include absent tibia and bifurcated femur. However, the upper limb deformities are consistent with Brachmann-de Lange syndrome. This case illustrates the variability seen in Brachmann-de Lange syndrome and emphasizes the importance to include this condition in the differential diagnosis when limb defects are seen on prenatal sonogram.