Developmental delay and muscle hypotonia were observed since the first months of life. [molecularcytogenetics.biomedcentral.com]

upper limbs with bilateral thumb aplasia, hypoplastic radius on the left and subtotal aplastic radius on the right, radial club hands, ventricular septal defects, slit-like openings of auditory ducts, and flat feet. [doi.org]

We report a spectrum of defects that were found in an 18-year-old girl who presented for investigation of primary amenorrhea. [ncbi.nlm.nih.gov]

We report a spectrum of defects that were found in an 18-year-old girl who presented for investigation of primary amenorrhea. [ncbi.nlm.nih.gov]

At examination, she had a mild facial dysmorphism, microcephaly, spastic paraplegia and Duane anomaly. [ncbi.nlm.nih.gov]