Non-syndromic bilateral ulnar aplasia with humero-radial synostosis and oligo-ectro-dactyly.
Terri Patricia McVeighJonathan A SoyeEmma GordonSally A LynchPublished in: American journal of medical genetics. Part A (2018)
Congenital anomalies of the upper limbs are rare and etiologically heterogeneous. Herein, we report a male infant with non-syndromic bilateral Type Vb ulnar longitudinal dysplasia with radiohumeral synostosis (apparent humeral bifurcation), and bilateral oligo-ectro-syndactyly who was born following an uncomplicated pregnancy, with no maternal use of prescription or illicit medication. Array CGH (60,000 probes) and chromosomal breakage analysis (DEB) were normal. Similar appearances have been reported in children exposed to thalidomide or cocaine, but sporadic patients have also been reported without a prior history of exposure to known teratogens.
Keyphrases
- end stage renal disease
- intellectual disability
- case report
- newly diagnosed
- chronic kidney disease
- ejection fraction
- pregnancy outcomes
- young adults
- prognostic factors
- healthcare
- small molecule
- peritoneal dialysis
- preterm birth
- high resolution
- low birth weight
- autism spectrum disorder
- emergency department
- magnetic resonance imaging
- late onset
- pregnant women
- gestational age
- single molecule
- mass spectrometry
- preterm infants
- fluorescence imaging
- urinary tract infection
- diffusion weighted imaging
- nucleic acid
- electronic health record